Statistics

 array:25 [
  "pii" => "S0021755719306175"
  "issn" => "00217557"
  "doi" => "10.1016/j.jped.2019.05.008"
  "estado" => "S300"
  "fechaPublicacion" => "2020-11-01"
  "aid" => "839"
  "copyright" => "Sociedade Brasileira de Pediatria"
  "copyrightAnyo" => "2020"
  "documento" => "article"
  "crossmark" => 1
  "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/"
  "subdocumento" => "fla"
  "cita" => "J Pediatr (Rio J). 2020;96:710-6"
  "abierto" => array:3 [
    "ES" => true
    "ES2" => true
    "LATM" => true
  ]
  "gratuito" => true
  "lecturas" => array:2 [
    "total" => 103
    "formatos" => array:3 [
      "EPUB" => 40
      "HTML" => 33
      "PDF" => 30
    ]
  ]
  "Traduccion" => array:1 [
    "pt" => array:20 [
      "pii" => "S225555361930196X"
      "issn" => "22555536"
      "doi" => "10.1016/j.jpedp.2019.11.001"
      "estado" => "S300"
      "fechaPublicacion" => "2020-11-01"
      "aid" => "839"
      "copyright" => "Sociedade Brasileira de Pediatria"
      "documento" => "article"
      "crossmark" => 1
      "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/"
      "subdocumento" => "fla"
      "cita" => "J Pediatr (Rio J). 2020;96:710-6"
      "abierto" => array:3 [
        "ES" => true
        "ES2" => true
        "LATM" => true
      ]
      "gratuito" => true
      "lecturas" => array:2 [
        "total" => 79
        "formatos" => array:3 [
          "EPUB" => 19
          "HTML" => 28
          "PDF" => 32
        ]
      ]
      "pt" => array:13 [
        "idiomaDefecto" => true
        "cabecera" => "<span class="elsevierStyleTextfn">Artigo Original</span>"
        "titulo" => "Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation&#58; analysis of a ten&#8208;year experience in a Brazilian center"
        "tienePdf" => "pt"
        "tieneTextoCompleto" => "pt"
        "tieneResumen" => array:2 [
          0 => "en"
          1 => "pt"
        ]
        "paginas" => array:1 [
          0 => array:2 [
            "paginaInicial" => "710"
            "paginaFinal" => "716"
          ]
        ]
        "titulosAlternativos" => array:1 [
          "pt" => array:1 [
            "titulo" => "Isoeletrofocaliza&#231;&#227;o da transferrina para investiga&#231;&#227;o das doen&#231;as cong&#234;nitas da glicosila&#231;&#227;o&#58; an&#225;lise de dez anos de experi&#234;ncia de um centro brasileiro"
          ]
        ]
        "contieneResumen" => array:2 [
          "en" => true
          "pt" => true
        ]
        "contieneTextoCompleto" => array:1 [
          "pt" => true
        ]
        "contienePdf" => array:1 [
          "pt" => true
        ]
        "resumenGrafico" => array:2 [
          "original" => 0
          "multimedia" => array:7 [
            "identificador" => "fig0005"
            "etiqueta" => "Figura 1"
            "tipo" => "MULTIMEDIAFIGURA"
            "mostrarFloat" => true
            "mostrarDisplay" => false
            "figura" => array:1 [
              0 => array:4 [
                "imagen" => "gr1.jpeg"
                "Alto" => 1081
                "Ancho" => 2189
                "Tamanyo" => 144899
              ]
            ]
            "descripcion" => array:1 [
              "pt" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">N&#250;mero de casos que fizeram isoeletrofocaliza&#231;&#227;o da transferrina &#40;IETF&#41; por ano no Laborat&#243;rio de Erros Inatos do Metabolismo do Hospital de Cl&#237;nicas de Porto Alegre&#44; Brasil&#46; Em destaque o n&#250;mero de casos alterados por ano e sua porcentagem&#46;</p>"
            ]
          ]
        ]
        "autores" => array:1 [
          0 => array:2 [
            "autoresLista" => "Ana Paula Pereira Scholz de Magalh&#227;es, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebasti&#227;o, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz"
            "autores" => array:8 [
              0 => array:2 [
                "nombre" => "Ana Paula Pereira Scholz de"
                "apellidos" => "Magalh&#227;es"
              ]
              1 => array:2 [
                "nombre" => "Maira Graeff"
                "apellidos" => "Burin"
              ]
              2 => array:2 [
                "nombre" => "Carolina Fischinger Moura de"
                "apellidos" => "Souza"
              ]
              3 => array:2 [
                "nombre" => "Fernanda Hendges de"
                "apellidos" => "Bitencourt"
              ]
              4 => array:2 [
                "nombre" => "Fernanda Medeiros"
                "apellidos" => "Sebasti&#227;o"
              ]
              5 => array:2 [
                "nombre" => "Thiago Oliveira"
                "apellidos" => "Silva"
              ]
              6 => array:2 [
                "nombre" => "Filippo Pinto e"
                "apellidos" => "Vairo"
              ]
              7 => array:2 [
                "nombre" => "Ida Vanessa Doederlein"
                "apellidos" => "Schwartz"
              ]
            ]
          ]
        ]
      ]
      "idiomaDefecto" => "pt"
      "Traduccion" => array:1 [
        "en" => array:9 [
          "pii" => "S0021755719306175"
          "doi" => "10.1016/j.jped.2019.05.008"
          "estado" => "S300"
          "subdocumento" => ""
          "abierto" => array:3 [
            "ES" => true
            "ES2" => true
            "LATM" => true
          ]
          "gratuito" => true
          "lecturas" => array:1 [
            "total" => 0
          ]
          "idiomaDefecto" => "en"
          "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0021755719306175?idApp=UINPBA000049"
        ]
      ]
      "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S225555361930196X?idApp=UINPBA000049"
      "url" => "/22555536/0000009600000006/v1_202011070634/S225555361930196X/v1_202011070634/pt/main.assets"
    ]
  ]
  "itemSiguiente" => array:20 [
    "pii" => "S0021755719302797"
    "issn" => "00217557"
    "doi" => "10.1016/j.jped.2019.07.008"
    "estado" => "S300"
    "fechaPublicacion" => "2020-11-01"
    "aid" => "826"
    "copyright" => "Sociedade Brasileira de Pediatria"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/"
    "subdocumento" => "fla"
    "cita" => "J Pediatr &#40;Rio J&#41;. 2020;96:717-24"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:2 [
      "total" => 176
      "formatos" => array:3 [
        "EPUB" => 50
        "HTML" => 76
        "PDF" => 50
      ]
    ]
    "en" => array:12 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>"
      "titulo" => "Low back pain in adolescents and association with sociodemographic factors&#44; electronic devices&#44; physical activity and mental health"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "tieneResumen" => array:2 [
        0 => "en"
        1 => "pt"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "717"
          "paginaFinal" => "724"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "pt" => array:1 [
          "titulo" => "Lombalgia em adolescentes e associa&#231;&#227;o com fatores sociodemogr&#225;ficos&#44; dispositivos eletr&#244;nicos&#44; atividade f&#237;sica e sa&#250;de mental"
        ]
      ]
      "contieneResumen" => array:2 [
        "en" => true
        "pt" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Thiago Paulo Frascareli Bento, Guilherme Porfirio Cornelio, Priscila de Oliveira Perrucini, Sandra Fiorelli Almeida Penteado Sime&#227;o, Marta Helena Souza de Conti, Alberto de Vitta"
          "autores" => array:6 [
            0 => array:2 [
              "nombre" => "Thiago Paulo Frascareli"
              "apellidos" => "Bento"
            ]
            1 => array:2 [
              "nombre" => "Guilherme Porfirio"
              "apellidos" => "Cornelio"
            ]
            2 => array:2 [
              "nombre" => "Priscila de Oliveira"
              "apellidos" => "Perrucini"
            ]
            3 => array:2 [
              "nombre" => "Sandra Fiorelli Almeida Penteado"
              "apellidos" => "Sime&#227;o"
            ]
            4 => array:2 [
              "nombre" => "Marta Helena Souza"
              "apellidos" => "de Conti"
            ]
            5 => array:2 [
              "nombre" => "Alberto"
              "apellidos" => "de Vitta"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S225555361930165X"
        "doi" => "10.1016/j.jpedp.2019.07.006"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S225555361930165X?idApp=UINPBA000049"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0021755719302797?idApp=UINPBA000049"
    "url" => "/00217557/0000009600000006/v1_202011070642/S0021755719302797/v1_202011070642/en/main.assets"
  ]
  "itemAnterior" => array:20 [
    "pii" => "S0021755719302542"
    "issn" => "00217557"
    "doi" => "10.1016/j.jped.2019.10.009"
    "estado" => "S300"
    "fechaPublicacion" => "2020-11-01"
    "aid" => "850"
    "copyright" => "Sociedade Brasileira de Pediatria"
    "documento" => "article"
    "crossmark" => 1
    "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/"
    "subdocumento" => "fla"
    "cita" => "J Pediatr &#40;Rio J&#41;. 2020;96:702-9"
    "abierto" => array:3 [
      "ES" => true
      "ES2" => true
      "LATM" => true
    ]
    "gratuito" => true
    "lecturas" => array:2 [
      "total" => 71
      "formatos" => array:3 [
        "EPUB" => 16
        "HTML" => 28
        "PDF" => 27
      ]
    ]
    "en" => array:13 [
      "idiomaDefecto" => true
      "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>"
      "titulo" => "Impact of the tetra viral vaccine introduction on varicella morbidity and mortality in the Brazilian macro regions"
      "tienePdf" => "en"
      "tieneTextoCompleto" => "en"
      "tieneResumen" => array:2 [
        0 => "en"
        1 => "pt"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "702"
          "paginaFinal" => "709"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "pt" => array:1 [
          "titulo" => "Impacto da introdu&#231;&#227;o da vacina tetra viral na morbimortalidade por varicela nas macrorregi&#245;es brasileiras"
        ]
      ]
      "contieneResumen" => array:2 [
        "en" => true
        "pt" => true
      ]
      "contieneTextoCompleto" => array:1 [
        "en" => true
      ]
      "contienePdf" => array:1 [
        "en" => true
      ]
      "resumenGrafico" => array:2 [
        "original" => 0
        "multimedia" => array:8 [
          "identificador" => "fig0010"
          "etiqueta" => "Figure 2"
          "tipo" => "MULTIMEDIAFIGURA"
          "mostrarFloat" => true
          "mostrarDisplay" => false
          "figura" => array:1 [
            0 => array:4 [
              "imagen" => "gr2.jpeg"
              "Alto" => 1602
              "Ancho" => 2500
              "Tamanyo" => 234881
            ]
          ]
          "detalles" => array:1 [
            0 => array:3 [
              "identificador" => "at0010"
              "detalle" => "Figure "
              "rol" => "short"
            ]
          ]
          "descripcion" => array:1 [
            "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Mortality rate per 100&#44;000 &#40;black circles&#41; and hospitalization rate per 10&#44;000 &#40;white circles&#41; for varicella in children aged 1&#8211;4 years by macroregions of Brazil&#46;</p>"
          ]
        ]
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "Marcella Z&#46; Ribeiro, Emil Kupek, Paulo V&#46;Z&#46; Ribeiro, Carlos Eduardo Andrade Pinheiro"
          "autores" => array:4 [
            0 => array:2 [
              "nombre" => "Marcella Z&#46;"
              "apellidos" => "Ribeiro"
            ]
            1 => array:2 [
              "nombre" => "Emil"
              "apellidos" => "Kupek"
            ]
            2 => array:2 [
              "nombre" => "Paulo V&#46;Z&#46;"
              "apellidos" => "Ribeiro"
            ]
            3 => array:2 [
              "nombre" => "Carlos Eduardo Andrade"
              "apellidos" => "Pinheiro"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "en"
    "Traduccion" => array:1 [
      "pt" => array:9 [
        "pii" => "S2255553619302058"
        "doi" => "10.1016/j.jpedp.2019.12.001"
        "estado" => "S300"
        "subdocumento" => ""
        "abierto" => array:3 [
          "ES" => true
          "ES2" => true
          "LATM" => true
        ]
        "gratuito" => true
        "lecturas" => array:1 [
          "total" => 0
        ]
        "idiomaDefecto" => "pt"
        "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2255553619302058?idApp=UINPBA000049"
      ]
    ]
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0021755719302542?idApp=UINPBA000049"
    "url" => "/00217557/0000009600000006/v1_202011070642/S0021755719302542/v1_202011070642/en/main.assets"
  ]
  "en" => array:21 [
    "idiomaDefecto" => true
    "cabecera" => "<span class="elsevierStyleTextfn">Original article</span>"
    "titulo" => "Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation&#58; analysis of a ten-year experience in a Brazilian center"
    "tieneTextoCompleto" => true
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "710"
        "paginaFinal" => "716"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "Ana Paula Pereira Scholz de Magalh&#227;es, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebasti&#227;o, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz"
        "autores" => array:8 [
          0 => array:3 [
            "nombre" => "Ana Paula Pereira Scholz de"
            "apellidos" => "Magalh&#227;es"
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "Maira Graeff"
            "apellidos" => "Burin"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          2 => array:3 [
            "nombre" => "Carolina Fischinger Moura de"
            "apellidos" => "Souza"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          3 => array:3 [
            "nombre" => "Fernanda Hendges"
            "apellidos" => "de Bitencourt"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "Fernanda Medeiros"
            "apellidos" => "Sebasti&#227;o"
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "Thiago Oliveira"
            "apellidos" => "Silva"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          6 => array:3 [
            "nombre" => "Filippo Pinto e"
            "apellidos" => "Vairo"
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">d</span>"
                "identificador" => "aff0020"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">e</span>"
                "identificador" => "aff0025"
              ]
            ]
          ]
          7 => array:4 [
            "nombre" => "Ida Vanessa Doederlein"
            "apellidos" => "Schwartz"
            "email" => array:1 [
              0 => "ischwartz@hcpa.edu.br"
            ]
            "referencia" => array:4 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
              2 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "aff0015"
              ]
              3 => array:2 [
                "etiqueta" => "&#42;"
                "identificador" => "cor0005"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:5 [
          0 => array:3 [
            "entidad" => "Universidade Federal do Rio Grande do Sul &#40;UFRGS&#41;&#44; Programa de P&#243;s Gradua&#231;&#227;o em Ci&#234;ncias M&#233;dicas&#44; Porto Alegre&#44; RS&#44; Brazil"
            "etiqueta" => "a"
            "identificador" => "aff0005"
          ]
          1 => array:3 [
            "entidad" => "Hospital de Cl&#237;nicas de Porto Alegre &#40;HCPA&#41;&#44; Servi&#231;o de Gen&#233;tica M&#233;dica&#44; Porto Alegre&#44; RS&#44; Brazil"
            "etiqueta" => "b"
            "identificador" => "aff0010"
          ]
          2 => array:3 [
            "entidad" => "Universidade Federal do Rio Grande do Sul &#40;UFRGS&#41;&#44; Departamento de Gen&#233;tica&#44; Porto Alegre&#44; RS&#44; Brazil"
            "etiqueta" => "c"
            "identificador" => "aff0015"
          ]
          3 => array:3 [
            "entidad" => "Mayo Clinic&#44; Departament of Clinical Genomics&#44; Rochester&#44; United States"
            "etiqueta" => "d"
            "identificador" => "aff0020"
          ]
          4 => array:3 [
            "entidad" => "Mayo Clinic&#44; Center for Individualized Medicine&#44; Rochester&#44; United States"
            "etiqueta" => "e"
            "identificador" => "aff0025"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#8270;"
            "correspondencia" => "Corresponding author&#46;"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "pt" => array:1 [
        "titulo" => "Isoeletrofocaliza&#231;&#227;o da transferrina para investiga&#231;&#227;o das doen&#231;as cong&#234;nitas da glicosila&#231;&#227;o&#58; an&#225;lise de dez anos de experi&#234;ncia de um centro brasileiro"
      ]
    ]
    "resumenGrafico" => array:2 [
      "original" => 0
      "multimedia" => array:8 [
        "identificador" => "fig0005"
        "etiqueta" => "Fig&#46; 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 808
            "Ancho" => 1602
            "Tamanyo" => 153994
          ]
        ]
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0005"
            "detalle" => "Fig&#46; "
            "rol" => "short"
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Number of cases submitted to transferrin isoelectric focusing &#40;TfIEF&#41; per year at the Metabolism Inborn Errors Laboratory of the Hospital de Cl&#237;nicas de Porto Alegre&#44; Brazil&#46; The number of altered cases per year and their percentage are highlighted&#46;</p>"
        ]
      ]
    ]
    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Congenital disorders of glycosylation &#40;CDG&#41; are genetic diseases that affect the synthesis and processing of glycans from glycoproteins and glycolipids&#44; of autosomal recessive inheritance for the most part&#44; characterized by total or partial deficiency of proteins involved in protein or lipid glycosylation&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">There are two main types of protein glycosylation&#58; N-glycosylation and O-glycosylation&#46; N-glycosylation &#40;binding of N-glycans to the amino group of asparagine&#41; comprises an assembly step and a processing step that covers three distinct compartments&#58; cytoplasm&#44; endoplasmic reticulum&#44; and Golgi complex&#46; O-glycosylation &#40;binding of O-glycans to threonine or serine hydroxyl groups&#41; has no processing step and consists only of the assembly step&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Thus&#44; there are CDGs that involve N-glycosylation only&#44; O-glycosylation only&#44; or both&#46; It is estimated that 94&#37; of individuals with CDG have N-glycosylation defects&#44; with the most frequent being PMM2-CDG &#40;formerly CDG Ia&#41; and ALG6-CDG &#40;formerly CDG Ic&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Since the first clinical description in 1980&#44; more than 100 types of CDGs have been identified &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Clinical manifestations can appear as early as intrauterine life&#44; such as nonimmune fetal hydrops&#44; microcephaly&#44; congenital malformations&#44; and facial dysmorphisms&#59; in neonates and childhood&#44; cerebellar hypoplasia&#44; inverted nipples&#44; strabismus&#44; abnormal eye movements&#44; neuropsychomotor developmental delay &#40;NPMD&#41;&#44; hypotonia&#44; ataxia&#44; hyporeflexia&#44; seizures&#44; anorexia&#44; vomiting&#44; diarrhea&#44; immune system defects&#44; hypogonadism&#44; lipodystrophy&#44; hepatomegaly&#44; kyphosis&#44; scoliosis&#44; and cardiomyopathy can occur&#46; Milder non-dysmorphic features may also occur&#46; It is therefore recommended that the hypothesis of CDG be considered in any case of unexplained syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Regarding the diagnosis&#44; transferrin isoelectric focusing &#40;TfIEF&#41; is a screening test for CDGs that involves N-glycosylation&#44; because transferrin is N-glycosylated&#46; The TfIEF in these cases shows a cathodic displacement as a consequence of partial sialic acid deficiency&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0025" class="elsevierStylePara elsevierViewall">The technique detects two alteration patterns&#59; the type 1 alteration pattern&#44; mainly associated with defects related to the endoplasmic reticulum &#40;formerly known as type I CDG&#41;&#44; and the type 2 pattern&#44; in turn&#44; associated with defects related to the Golgi system &#40;formerly called type II CDG&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">At the Laboratory of Inborn Errors of Metabolism of Hospital de Cl&#237;nicas de Porto Alegre&#44; Rio Grande do Sul &#40;RS&#41;&#44; Brazil &#40;LEIM-HCPA&#41;&#44; the TfIEF is the only test performed for CDG investigation&#46; The method used was adapted from that described in 1995 by Hackler&#44; Rolf &#38; Kleine&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> Cases with altered TfIEF&#44; or suspected of O-glycosylation defects&#44; should be submitted to investigation for diagnostic confirmation&#44; either by enzymatic testing&#44; electrospray ionization&#8212;mass spectrometry&#47;matrix-assisted laser desorption&#47;ionization&#8212;time-of-flight mass spectrometry&#44;&#40;ESI&#47;MS&#44; MALDI-TOF&#41;&#44; or genetic analysis&#46; It is noteworthy that several conditions besides CDG are associated with altered TfIEF results&#44; such as galactosemia&#44; hereditary fructose intolerance&#44;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;8</span></a> liver disease&#44; chronic alcohol abuse&#44; infections by neuraminidase-producing microorganisms&#44; and transferrin polymorphisms&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#8211;12</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">In Brazil&#44; little is known about the prevalence or incidence of CDG in the population&#44; nor about the availability of tests for both screening and diagnosis of this disease&#46; The aim of this study is to characterize the cases screened by TfIEF at the LEIM-HCPA&#44; from 2008 to 2017&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0070">Methods</span><p id="par0040" class="elsevierStylePara elsevierViewall">This was an observational and retrospective study of individuals investigated by TfIEF at LEIM-HCPA&#44; from 2008 to 2017&#46; In 2018&#44; information from these cases was collected from their laboratory files and analyzed&#46; This study was approved by the HCPA Ethics Committee under number 18-0324&#46;</p><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0075">Data collection</span><p id="par0045" class="elsevierStylePara elsevierViewall">Data collection was carried out by reviewing LEIM-HCPA files&#46; The following data were considered&#58; date of TfIEF performance&#44; individual&#8217;s age&#44; gender&#44; place of origin&#44; TfIEF result&#44; signs and symptoms&#44; and family history&#46; Moreover&#44; for altered TfIEF cases&#44; the diagnosis of CDG or another disease was confirmed by complementary tests&#46; For individuals coming from the HCPA&#44; an electronic medical record review was also performed for individuals with altered results&#46; Information relevant to this study that was not found in the laboratory file or in the individuals&#39; electronic medical record was considered non-existent&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0080">Statistical analysis</span><p id="par0050" class="elsevierStylePara elsevierViewall">The databases were created using Microsoft Office Excel &#40;Microsoft Corporation&#44; Excel&#44; version 2010&#44; WA&#44; USA&#41; and the IBM SPSS Statistics &#40;Released 2009&#46; PASW Statistics for Windows&#44; version 18&#46;0&#44; IL&#44; USA&#41; program was used for the statistical analysis&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">The descriptive aspects were presented as frequencies for data corresponding to the normal and altered patterns of TfIEF&#46; Data on age was presented as means&#44; standard deviations&#44; medians&#44; and quartiles&#46; Pearson&#8217;s exact chi-squared test was initially used to compare the variables between the groups with and without TfIEF alterations&#44; with continuity correction&#44; or Fisher&#39;s exact test &#40;significance&#58; p<span class="elsevierStyleHsp" style=""></span>&#60;<span class="elsevierStyleHsp" style=""></span>0&#46;05&#41;&#46; Subsequently&#44; residual analyses &#40;crude prevalence ratio and adjusted prevalence ratio&#8212;Poisson regression with robust variance&#41; were performed in cases with p<span class="elsevierStyleHsp" style=""></span>&#60;<span class="elsevierStyleHsp" style=""></span>0&#46;05 in the previous analysis&#46; Only variables with a significant adjusted prevalence ratio were considered as differing between the groups with altered or normal TfIEF&#46; For the analysis of the age when the test was performed&#44; the nonparametric Mann-Whitney test was used&#46;</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0085">Results</span><p id="par0060" class="elsevierStylePara elsevierViewall">From 2008 to 2017&#44; 1546 individuals underwent TfIEF&#44; of whom 566 &#40;37&#37;&#41; were from RS and 980 &#40;63&#37;&#41; from other states in Brazil &#40;Santa Catarina&#47;Paran&#225;&#58; 62 &#91;4&#37;&#93;&#59; Southeast region 744 &#91;48&#37;&#93;&#59; Northeast 77 &#91;5&#37;&#93;&#59; Midwest 64 &#91;4&#37;&#93;&#59; North 33 &#91;2&#37;&#93;&#41;&#46; The annual average number of investigated cases was 156<span class="elsevierStyleHsp" style=""></span>&#177;<span class="elsevierStyleHsp" style=""></span>49 cases per year&#44; and of these&#44; 5<span class="elsevierStyleHsp" style=""></span>&#177;<span class="elsevierStyleHsp" style=""></span>2&#46;8 cases per year with altered TfIEF&#46; The highest number of investigated cases was observed in 2012 &#40;246&#41;&#59; in 2017&#44; the highest number of altered cases &#40;11&#41; was observed&#46; &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41; Fifty-one individuals &#40;3&#37;&#59; RS<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>23&#41; showed alterations in the TfIEF test&#46; Of these&#44; 14 &#40;28&#37;&#41; completed the investigation &#40;RS<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>11&#41;&#44; and four individuals &#40;RS<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>3&#41; attained the confirmatory diagnosis of CDG through genetic analysis &#40;MPDU1-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#44; SLC35A2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#44; PMM2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>2&#41;&#46; For the remaining cases&#44; complementary tests allowed ruling out CDG and the confirmatory diagnosis of other diseases&#58; classic galactosemia &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#44; all confirmed by measuring Galactose-1-phosphate Uridyl Transferase activity &#40;Gal1PUT&#41;&#41;&#44; hereditary fructose intolerance &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#44; all confirmed by genetic analysis&#41; &#40;<a class="elsevierStyleCrossRef" href="#tbl0010">Table 2</a>&#41;&#44; and two cases of peroxisomal disease &#40;both confirmed by measurement of very long-chain fatty acids&#41;&#46;For the remaining 37 cases&#44; it was not possible to obtain additional information about the diagnostic conclusion&#46; Considering only the cases from RS&#44; of the 566 cases investigated by TfIEF&#44; 23 had an altered pattern &#40;4&#37;&#41; and 11&#47;23 &#40;48&#37;&#41; had a confirmed disease diagnosis &#40;CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>3&#47;11 or 27&#37;&#41;&#46; <a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a> shows the complete profile of the individuals included in the study&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="tbl0010"></elsevierMultimedia><elsevierMultimedia ident="tbl0015"></elsevierMultimedia><p id="par0065" class="elsevierStylePara elsevierViewall">The age group from 11 to 36 months was the group with the highest prevalence of altered results&#44; as 48&#37; of individuals with altered results were in this age group&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">The most common clinical manifestation in the investigated cases was NPMD&#44; followed by seizures&#44; hypotonia&#44; intellectual impairment&#44; and dysmorphisms&#46; However&#44; the most frequent symptoms in cases with alterations in the TfIEF were&#58; NPMD&#44; hypotonia&#44; liver disease&#44; intellectual impairment&#44; and hepatomegaly&#44; with inverted nipples &#40;adjusted prevalence ratio<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>11&#41;&#44; followed by liver disease&#44; hypoglycemia&#44; ophthalmic alterations&#44; and familial recurrence representing the clinical manifestations statistically associated with altered TfIEF &#40;<a class="elsevierStyleCrossRef" href="#tbl0015">Table 3</a>&#41;&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0090">Discussion</span><p id="par0075" class="elsevierStylePara elsevierViewall">CDGs have been described as a major diagnostic challenge&#44; since in this set of diseases almost all organs are affected&#44; and a wide variety of symptoms have already been described&#46; Therefore&#44; the recommendation is to consider CDG in any case of unexplained disease&#44; especially in the presence of neurological symptoms&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">13</span></a> In Brazil&#44; another factor that contributes to diagnostic difficulty is the problems in accessing confirmatory tests&#46; Within this context&#44; these data suggest the underdiagnosis of CDGs in Brazil&#44; and that efforts should be made to implement the diagnostic tests&#46;</p><p id="par0080" class="elsevierStylePara elsevierViewall">The protocol for CDG investigation established in HCPA does not include a full investigation of the disease&#44; as only TfIEF is offered&#46; The most cost-effective protocol&#44; after ruling out other diseases that may cause TfIEF alteration&#44; is not well established yet&#46; A possible strategy would be the initial sequencing of the <span class="elsevierStyleItalic">PMM2</span> gene only for altered cases with the type I CDG pattern&#44; since these are the most frequent cases of CDG&#46; If the sequencing does not disclose any abnormality&#44; a panel analysis with CDG-specific genes would be performed and&#44; if negative&#44; a full exome sequencing would be indicated&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Another possible strategy would be a direct initial investigation through a panel including the genes that cause CDG&#46;</p><p id="par0085" class="elsevierStylePara elsevierViewall">Although CDGs are rare genetic diseases&#44; there is a significant number of individuals with suspected disease&#44; as shown by the annual average of cases investigated by TfIEF in LEIM-HCPA&#46; However&#44; the number of confirmed cases was small &#40;only four individuals in ten years&#41;&#44; suggesting the occurrence of the underdiagnosis of these diseases in Brazil&#44; especially considering that the estimated frequency for PMM2-CDG&#44; which is the most common CDG&#44; is approximately 1&#58;20&#44;000 newborns&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">14</span></a> Even in the absence of specific treatment for most CDGs&#44; diagnostic confirmation is critical for genetic counseling&#44; given the high risk of recurrence &#40;most CDGs have an X-linked or recessive autosomal inheritance pattern&#41;&#46;</p><p id="par0090" class="elsevierStylePara elsevierViewall">This study also showed that classical galactosemia and hereditary fructose intolerance are frequent causes of TfIEF alterations&#46; Galactosemia has been reported as a second type of glycosylation defect&#46;<a class="elsevierStyleCrossRefs" href="#bib0025"><span class="elsevierStyleSup">5&#44;7</span></a> The literature indicates there are abnormalities in the glycosylation of N-glycans in the serum transferrin of neonates with untreated galactosemia&#46; These abnormalities are largely resolved by dietary treatment with galactose restriction&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">7&#44;15&#44;16</span></a> Another disease that can lead to the hypoglycosylation of transferrin isoforms is hereditary fructose intolerance&#46; It is caused by a deficiency in aldolase B enzyme activity and&#44; therefore&#44; fructose-1<span class="elsevierStyleHsp" style=""></span>P accumulates in liver cells&#44; resulting in the inhibition of phosphomannose isomerase&#44; an enzyme present in the early stages of protein glycosylation&#46;<a class="elsevierStyleCrossRefs" href="#bib0085"><span class="elsevierStyleSup">17&#44;18</span></a></p><p id="par0095" class="elsevierStylePara elsevierViewall">However&#44; considering the liver is the major glycosylation organ&#44; also responsible for the production of most glycosylated serum proteins&#44; glycosylation defects are associated with clinical liver symptoms&#44; which are present in approximately 20&#37; of CDG cases&#46;<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">19</span></a> The present study corroborates these findings&#44; as liver disease is strongly associated with changes in the TfIEF pattern &#40;individuals with liver disease are 4&#46;6-fold more likely to have an alteration in TfIEF than individuals without this symptom&#41;&#46; Liver diseases are associated with altered TfIEF results&#59; however&#44; this alteration may not be directly associated with CDGs&#44; but rather with other IEMs that affect the liver&#44; such as peroxisomal diseases&#44; identified in two cases with altered TfIEF in our study&#46;</p><p id="par0100" class="elsevierStylePara elsevierViewall">The fact that the age group of 11&#8211;36 months showed the highest prevalence of altered TfIEF results suggests that the conditions that cause TfIEF alterations &#40;among them the CDGs&#41; occur mainly in childhood after the breastfeeding period&#46;</p><p id="par0105" class="elsevierStylePara elsevierViewall">These data show that the presence of inverted nipples had the highest rate of association with TfIEF alteration &#40;the adjusted prevalence ratio shows that this symptom increases the individual&#39;s chance of having altered TfIEF by 11-fold&#41;&#46; Inverted nipples are usually present in individuals with CDG at birth and may return to normal within a few days or weeks of life&#46; However&#44; persistence of the finding in adulthood may occur&#46; It is important to note&#44; however&#44; that the list of syndromes associated with inverted nipple is a long one&#44; including&#44; for instance&#44; Turner&#44; Smith-Lemli-Optiz&#44; and Robinow syndromes&#44; among others&#59; nonetheless&#44; it can also be observed in normal individuals&#46; In the case of CDG&#44; inverted nipples are more frequently found in individuals with N-glycosylation defects&#46;<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">20</span></a></p><p id="par0110" class="elsevierStylePara elsevierViewall">Regarding the limitations of this study&#44; it is important to mention that it is based on clinical information present in the files of individuals with suspected CDG&#46; Another important limitation regarding individuals from other regions of the country is that&#44; after the release of the patient&#8217;s file to the services of origin&#44; the authors have no information on the follow-up these individuals had&#44; <span class="elsevierStyleItalic">i&#46;e&#46;</span>&#44; whether the patient completed the investigation or not&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0095">Conclusion</span><p id="par0115" class="elsevierStylePara elsevierViewall">Despite the limitations of the study regarding the retrospective analysis of cases through the review of medical records and the lack of uniformity of care and diagnosis of patients from different regions of the country&#44; it was observed that it is necessary to implement new diagnostic techniques for CDG&#44; as well as a more comprehensive protocol for CDG investigation in the LEIM-HCPA&#46; The findings show that although alterations in the TfIEF were reported in 51 cases&#44; the CDG diagnosis was confirmed in only four individuals&#46;</p><p id="par0120" class="elsevierStylePara elsevierViewall">The obtained data also showed that the main symptoms that led to suspected CDG were neurological&#46; However&#44; individuals with inverted nipples&#44; liver disease&#44; hypoglycemia&#44; ophthalmological alterations&#44; and history of other cases in the family were the most likely to have altered TfIEF&#46; Therefore&#44; screening for CDG should be especially considered when these clinical manifestations are present&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0100">Funding</span><p id="par0125" class="elsevierStylePara elsevierViewall">This study received funding from <span class="elsevierStyleGrantSponsor" id="gs0005">Fundo de Incentivo &#224; Pesquisa e Eventos do Hospital de Cl&#237;nicas de Porto Alegre &#40;FIPE-HCPA&#41;</span>&#44; funding number&#58; <span class="elsevierStyleGrantNumber" refid="gs0005">18-0324</span>&#46;</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0105">Conflicts of interest</span><p id="par0130" class="elsevierStylePara elsevierViewall">The authors declare no conflicts of interest&#46;</p></span></span>"
    "textoCompletoSecciones" => array:1 [
      "secciones" => array:13 [
        0 => array:3 [
          "identificador" => "xres1409820"
          "titulo" => "Abstract"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0005"
              "titulo" => "Objectives"
            ]
            1 => array:2 [
              "identificador" => "abst0010"
              "titulo" => "Method"
            ]
            2 => array:2 [
              "identificador" => "abst0015"
              "titulo" => "Results"
            ]
            3 => array:2 [
              "identificador" => "abst0020"
              "titulo" => "Conclusions"
            ]
          ]
        ]
        1 => array:2 [
          "identificador" => "xpalclavsec1289732"
          "titulo" => "Keywords"
        ]
        2 => array:3 [
          "identificador" => "xres1409819"
          "titulo" => "Resumo"
          "secciones" => array:4 [
            0 => array:2 [
              "identificador" => "abst0025"
              "titulo" => "Objetivos"
            ]
            1 => array:2 [
              "identificador" => "abst0030"
              "titulo" => "Metodologia"
            ]
            2 => array:2 [
              "identificador" => "abst0035"
              "titulo" => "Resultados"
            ]
            3 => array:2 [
              "identificador" => "abst0040"
              "titulo" => "Conclus&#245;es"
            ]
          ]
        ]
        3 => array:2 [
          "identificador" => "xpalclavsec1289733"
          "titulo" => "PALAVRAS-CHAVE"
        ]
        4 => array:2 [
          "identificador" => "sec0005"
          "titulo" => "Introduction"
        ]
        5 => array:3 [
          "identificador" => "sec0010"
          "titulo" => "Methods"
          "secciones" => array:2 [
            0 => array:2 [
              "identificador" => "sec0015"
              "titulo" => "Data collection"
            ]
            1 => array:2 [
              "identificador" => "sec0020"
              "titulo" => "Statistical analysis"
            ]
          ]
        ]
        6 => array:2 [
          "identificador" => "sec0025"
          "titulo" => "Results"
        ]
        7 => array:2 [
          "identificador" => "sec0030"
          "titulo" => "Discussion"
        ]
        8 => array:2 [
          "identificador" => "sec0035"
          "titulo" => "Conclusion"
        ]
        9 => array:2 [
          "identificador" => "sec0040"
          "titulo" => "Funding"
        ]
        10 => array:2 [
          "identificador" => "sec0045"
          "titulo" => "Conflicts of interest"
        ]
        11 => array:2 [
          "identificador" => "xack490665"
          "titulo" => "Acknowledgements"
        ]
        12 => array:1 [
          "titulo" => "References"
        ]
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2019-02-18"
    "fechaAceptado" => "2019-05-14"
    "PalabrasClave" => array:2 [
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Keywords"
          "identificador" => "xpalclavsec1289732"
          "palabras" => array:4 [
            0 => "Isoelectric focusing"
            1 => "Transferrin"
            2 => "Congenital disorders of glycosylation"
            3 => "Screening"
          ]
        ]
      ]
      "pt" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "PALAVRAS-CHAVE"
          "identificador" => "xpalclavsec1289733"
          "palabras" => array:4 [
            0 => "Isoeletrofocaliza&#231;&#227;o"
            1 => "Transferrina"
            2 => "Doen&#231;as cong&#234;nitas da glicosila&#231;&#227;o"
            3 => "Triagem"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "en" => array:3 [
        "titulo" => "Abstract"
        "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Objectives</span><p id="spar0060" class="elsevierStyleSimplePara elsevierViewall">To characterize cases of suspected congenital disorders of glycosylation &#40;CDG&#41; investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017&#46;</p></span> <span id="abst0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Method</span><p id="spar0065" class="elsevierStyleSimplePara elsevierViewall">Observational&#44; cross-sectional&#44; retrospective study&#46; The laboratory records of 1&#44;546 individuals &#40;median age<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>36 months&#44; 25&#8211;75 IQR<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>10&#8211;108&#59; males<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>810&#41; submitted to the TfIEF test during the period were reviewed&#46;</p></span> <span id="abst0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Results</span><p id="spar0070" class="elsevierStyleSimplePara elsevierViewall">Fifty-one individuals &#40;3&#37;&#41; had an altered TfIEF pattern &#40;5<span class="elsevierStyleHsp" style=""></span>&#177;<span class="elsevierStyleHsp" style=""></span>2&#46;8 cases&#47;year&#59; median age<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>24 months&#44; 25&#8211;75 IQR<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>11&#8211;57 months&#59; males<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>27&#44; 53&#37;&#41;&#46; For 14 of them&#44; data on diagnosis conclusion were available &#40;classic galactosemia<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#59; hereditary fructose intolerance<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#59; peroxisomal diseases<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>2&#59; PMM2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>2&#59; MPDU1-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#59; SLC35A2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#41;&#46;Comparing the cases with the normal and altered TfIEF patterns&#44; there was a higher prevalence of altered cases in the age group from 11 months to 3 years&#46; There was an increase in the likelihood of change in TfIEF&#44; especially in the presence of inverted nipples or liver disease&#46;</p></span> <span id="abst0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Conclusions</span><p id="spar0075" class="elsevierStyleSimplePara elsevierViewall">The data suggest that the investigation of a case with suspected CDG is a complex problem&#44; being aggravated by the existence of other IEMs &#40;inborn errors of metabolism&#41; associated with altered TfIEF pattern and lack of access to confirmatory tests&#46; The presence of inverted nipples and liver disease&#44; especially in individuals aged 11 months to 3 years&#44; should suggest the need for TfIEF investigation&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0005"
            "titulo" => "Objectives"
          ]
          1 => array:2 [
            "identificador" => "abst0010"
            "titulo" => "Method"
          ]
          2 => array:2 [
            "identificador" => "abst0015"
            "titulo" => "Results"
          ]
          3 => array:2 [
            "identificador" => "abst0020"
            "titulo" => "Conclusions"
          ]
        ]
      ]
      "pt" => array:3 [
        "titulo" => "Resumo"
        "resumen" => "<span id="abst0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Objetivos</span><p id="spar0080" class="elsevierStyleSimplePara elsevierViewall">Caracterizar os casos com suspeita de CDG investigados em laborat&#243;rio do sul do Brasil pelo exame de IEFTF de 2008 a 2017&#46;</p></span> <span id="abst0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Metodologia</span><p id="spar0085" class="elsevierStyleSimplePara elsevierViewall">Estudo observacional&#44; transversal&#44; retrospectivo&#46; Foram revisadas as fichas laboratoriais de 1&#46;546 indiv&#237;duos &#40;mediana de idade<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>36 meses&#44; IQ 25-75 <span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>10-108&#59; sexo masculino<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>810&#41; que fizeram o exame de IEFTF no per&#237;odo&#46;</p></span> <span id="abst0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Resultados</span><p id="spar0090" class="elsevierStyleSimplePara elsevierViewall">Cinquenta e um indiv&#237;duos &#40;3&#37;&#41; apresentaram padr&#227;o alterado na IEFTF &#40;5<span class="elsevierStyleHsp" style=""></span>&#177;<span class="elsevierStyleHsp" style=""></span>2&#44;8 casos&#47;ano&#59; mediana de idade<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>24 meses&#44; IQ 25-75 &#61;<span class="elsevierStyleHsp" style=""></span>11-57 meses&#59; sexo masculino<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>27&#44; 53&#37;&#41;&#46; Para 14 deles&#44; estavam dispon&#237;veis dados sobre a conclus&#227;o do diagn&#243;stico &#40;galactosemia cl&#225;ssica<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#59; intoler&#226;ncia heredit&#225;ria &#224; frutose<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#59; doen&#231;as peroxissomais<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>2&#59; PMM2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>2&#59; MPDU1-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#59; SLC35A2-CDG<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1&#41;&#46; Comparando os casos com padr&#227;o normal e alterado na IEFTF&#44; houve maior preval&#234;ncia de casos alterados na faixa et&#225;ria de 11 meses a 3 anos&#46; Verificou-se um aumento na probabilidade de altera&#231;&#227;o na IEFTF principalmente na presen&#231;a de mamilos invertidos ou de hepatopatia&#46;</p></span> <span id="abst0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conclus&#245;es</span><p id="spar0095" class="elsevierStyleSimplePara elsevierViewall">Os nossos dados sugerem que a investiga&#231;&#227;o de um caso com suspeita de CDG &#233; complexa&#44; &#233; agravada pela exist&#234;ncia de outros EIM associados a padr&#227;o alterado na IEFTF e pela falta de acesso a exames confirmat&#243;rios&#46; A presen&#231;a principalmente de mamilos invertidos e de hepatopatia em indiv&#237;duos na faixa et&#225;ria de 11 meses a 3 anos deve sugerir a necessidade de investiga&#231;&#227;o por IEFTF&#46;</p></span>"
        "secciones" => array:4 [
          0 => array:2 [
            "identificador" => "abst0025"
            "titulo" => "Objetivos"
          ]
          1 => array:2 [
            "identificador" => "abst0030"
            "titulo" => "Metodologia"
          ]
          2 => array:2 [
            "identificador" => "abst0035"
            "titulo" => "Resultados"
          ]
          3 => array:2 [
            "identificador" => "abst0040"
            "titulo" => "Conclus&#245;es"
          ]
        ]
      ]
    ]
    "NotaPie" => array:2 [
      0 => array:2 [
        "etiqueta" => "&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0015">Please cite this article as&#58; Magalh&#227;es AP&#44; Burin MG&#44; Souza CF&#44; Bitencourt FH&#44; Sebasti&#227;o FM&#44; Silva TO&#44; et al&#46; Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation&#58; analysis of a ten-year experience in a Brazilian center&#46; J Pediatr &#40;Rio J&#41;&#46; 2020&#59;96&#58;710&#8211;6&#46;</p>"
      ]
      1 => array:2 [
        "etiqueta" => "&#9734;&#9734;"
        "nota" => "<p class="elsevierStyleNotepara" id="npar0020">Study conducted at Universidade Federal do Rio Grande do Sul &#40;UFRGS&#41;&#44; Hospital de Cl&#237;nicas de Porto Alegre &#40;HCPA&#41;&#44; Porto Alegre&#44; RS&#44; Brazil&#46;</p>"
      ]
    ]
    "multimedia" => array:4 [
      0 => array:8 [
        "identificador" => "fig0005"
        "etiqueta" => "Fig&#46; 1"
        "tipo" => "MULTIMEDIAFIGURA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "figura" => array:1 [
          0 => array:4 [
            "imagen" => "gr1.jpeg"
            "Alto" => 808
            "Ancho" => 1602
            "Tamanyo" => 153994
          ]
        ]
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0005"
            "detalle" => "Fig&#46; "
            "rol" => "short"
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Number of cases submitted to transferrin isoelectric focusing &#40;TfIEF&#41; per year at the Metabolism Inborn Errors Laboratory of the Hospital de Cl&#237;nicas de Porto Alegre&#44; Brazil&#46; The number of altered cases per year and their percentage are highlighted&#46;</p>"
        ]
      ]
      1 => array:8 [
        "identificador" => "tbl0005"
        "etiqueta" => "Table 1"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0010"
            "detalle" => "Table "
            "rol" => "short"
          ]
        ]
        "tabla" => array:2 [
          "leyenda" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">ERGIC&#44; endoplasmic reticulum golgi intermediate compartment&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">The CDG types in bold correspond to cases diagnosed in the present cohort&#46; The CDG nomenclature follows the name of the gene where the mutation occurs&#44; hyphenated with CDG&#46;</p><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Source of data&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">9&#8211;12</span></a></p>"
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td-with-role" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t ; entry_with_role_colgroup " colspan="7" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">GLYCOSYLATION PATHWAYS</th></tr><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">CELL LOCATION&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">N-glycosylation&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">O-glycosylation&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td-with-role" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t ; entry_with_role_colgroup " colspan="2" align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Lipidic&#47;glycosylphosphatidylinositol</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Multiples&#47;other pathways&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">O-mannosylglycan&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">CYTOPLASM&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">GMPPA</span>-CDG<span class="elsevierStyleItalic">GMPPB</span>-CDG<span class="elsevierStyleItalic">MPI</span>-CDG<span class="elsevierStyleBold"><span class="elsevierStyleItalic">PMM2</span>-CDG</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">EOGT-CDG</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">DHDDS</span>-CDG <span class="elsevierStyleItalic">NANS</span>-CDG<span class="elsevierStyleItalic">CAD</span>-CDG <span class="elsevierStyleItalic">PGM1</span>-CDG<span class="elsevierStyleItalic">GFPT1</span>-CDG <span class="elsevierStyleItalic">PGM3</span>-CDG<span class="elsevierStyleItalic">GNE</span>-CDG <span class="elsevierStyleItalic">CPS2</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ENDOPLASMIC RETICULUM&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">ALG1</span>-CDG <span class="elsevierStyleItalic">DPAGT1</span>-CDG<span class="elsevierStyleItalic">ALG2</span>-CDG <span class="elsevierStyleItalic">MOGS</span>-CDG<span class="elsevierStyleItalic">ALG3</span>-CDG <span class="elsevierStyleItalic">GANAB</span>-CDG<span class="elsevierStyleItalic">ALG6</span>-CDG <span class="elsevierStyleItalic">PRKCSH</span>-CDG<span class="elsevierStyleItalic">ALG8</span>-CDG <span class="elsevierStyleItalic">PRKCSH</span>-CDG<span class="elsevierStyleItalic">ALG9</span>-CDG <span class="elsevierStyleItalic">RFT1</span>-CDG<span class="elsevierStyleItalic">ALG11</span>-CDG <span class="elsevierStyleItalic">STT3A</span>-CDG<span class="elsevierStyleItalic">ALG12</span>-CDG <span class="elsevierStyleItalic">STT3B</span>-CDG<span class="elsevierStyleItalic">ALG13</span>-CDG <span class="elsevierStyleItalic">SSR3</span>-CDG<span class="elsevierStyleItalic">ALG14</span>-CDG <span class="elsevierStyleItalic">SSR4</span>-CDG<span class="elsevierStyleItalic">DDOST</span>-CDG <span class="elsevierStyleItalic">TUSC3</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">SLC35D1</span>-CDG<span class="elsevierStyleItalic">POGLUT1</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">PIGA</span>-CDG<span class="elsevierStyleItalic">PIGC</span>-CDG<span class="elsevierStyleItalic">PIGG</span>-CDG<span class="elsevierStyleItalic">PIGL</span>-CDG<span class="elsevierStyleItalic">PIGM</span>-CDG<span class="elsevierStyleItalic">PIGN</span>-CDG<span class="elsevierStyleItalic">PIGO</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">PIGQ</span>-CDG<span class="elsevierStyleItalic">PIGT</span>-CDG<span class="elsevierStyleItalic">PIGV</span>-CDG<span class="elsevierStyleItalic">PIGY</span>-CDG<span class="elsevierStyleItalic">PGAP1</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">DOLK</span>-CDG<span class="elsevierStyleItalic">NUS1</span>-CDG<span class="elsevierStyleItalic">SRD5A3</span>-CDG<span class="elsevierStyleItalic">DPM1</span>-CDG<span class="elsevierStyleItalic">DPM2</span>-CDG<span class="elsevierStyleItalic">DPM3</span>-CDG<span class="elsevierStyleBold"><span class="elsevierStyleItalic">MPDU1</span>-CDG</span><span class="elsevierStyleItalic">ATP6AP1</span>-CDG<span class="elsevierStyleItalic">TRAPPC11</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">GOLGI APPARATUS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">MAN1B1-CDGMGAT2-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">B4GALT7</span>-CDG<span class="elsevierStyleItalic">B3GALT6</span>-CDG<span class="elsevierStyleItalic">B3GAT3</span>-CDG<span class="elsevierStyleItalic">CHSY1</span>-CDG<span class="elsevierStyleItalic">EXT1</span>-CDG<span class="elsevierStyleItalic">EXT2</span>-CDG<span class="elsevierStyleItalic">B3GALTL</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">XYLT1</span>-CDG<span class="elsevierStyleItalic">XYLT2</span>-CDG<span class="elsevierStyleItalic">GALNT3</span>-CDG<span class="elsevierStyleItalic">LFNG</span>-CDG<span class="elsevierStyleItalic">POFUT1</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">B4GALNT1</span>-CDG<span class="elsevierStyleItalic">ST3GAL5</span>-CDG<span class="elsevierStyleItalic">PGAP2</span>-CDG<span class="elsevierStyleItalic">PGAP3</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">B4GALT1</span>-CDG <span class="elsevierStyleItalic">COG4</span>-CDG<span class="elsevierStyleItalic">ST3GAL3</span>-CDG <span class="elsevierStyleItalic">COG5</span>-CDG<span class="elsevierStyleItalic">SLC35A1</span>-CDG <span class="elsevierStyleItalic">COG6</span>-CDG<span class="elsevierStyleBold"><span class="elsevierStyleItalic">SLC35A2</span>-CDG</span><span class="elsevierStyleItalic">COG7</span>-CDG<span class="elsevierStyleItalic">SLC35A3</span>-CDG <span class="elsevierStyleItalic">COG8</span>-CDG<span class="elsevierStyleItalic">SLC35C1</span>-CDG <span class="elsevierStyleItalic">ATP6V0A2</span>-CDG<span class="elsevierStyleItalic">COG1</span>-CDG <span class="elsevierStyleItalic">TIMEM165</span>-CDG<span class="elsevierStyleItalic">COG2</span>-CD <span class="elsevierStyleItalic">VPS138</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">ERGIC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">SEC23B</span>-CDG<span class="elsevierStyleItalic">CCDC115</span>-CDG<span class="elsevierStyleItalic">TMEM199</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">PLASMA MEMBRANE&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">SLC39A8</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">SARCOLEMA MEMBRANE&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">&#8212;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleItalic">B3GALNT2</span>-CDG<span class="elsevierStyleItalic">FKTN</span>-CDG<span class="elsevierStyleItalic">FKRP</span>-CDG<span class="elsevierStyleItalic">ISPD</span>-CDG<span class="elsevierStyleItalic">LARGE</span>-CDG<span class="elsevierStyleItalic">POMGNT1</span>-CDG<span class="elsevierStyleItalic">POMT1</span>-CDG<span class="elsevierStyleItalic">POMT2</span>-CDG<span class="elsevierStyleItalic">TMEM5</span>-CDG<span class="elsevierStyleItalic">POMK</span>-CDG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
              ]
              "imagenFichero" => array:1 [
                0 => "xTab2417682.png"
              ]
            ]
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Examples of congenital disorders of glycosylation &#40;CDG&#41; described according to their cell location and the different glycosylation pathways&#46;</p>"
        ]
      ]
      2 => array:8 [
        "identificador" => "tbl0010"
        "etiqueta" => "Table 2"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0015"
            "detalle" => "Table "
            "rol" => "short"
          ]
        ]
        "tabla" => array:2 [
          "leyenda" => "<p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Patients A and B are not related&#46; F&#44; female&#59; M&#44; male&#59; NPMD&#44; neuro psycho motor developmental delay&#59; RS&#44; Rio Grande do Sul&#59; MG&#44; Minas Gerais&#59; AR&#44; autosomal recessive&#59; XL&#44; X-linked&#46;</p>"
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Patient&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Gender&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age at diagnosis &#40;months&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Origin&#40;state&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Parental Consanguinity&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Clinical Manifestations&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">CDG &#40;inheritance&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Genotype&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">A&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">2&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">RS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Cardiomyopathy&#44; inverted nipples&#44; NPMD&#44; eating difficulties&#44; hypotonia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">PMM2-CDG &#40;AR&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">c&#46;193G&#62;T<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>c&#46;422G&#62;A<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>p&#46;Asp65Tyr<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>p&#46;Arg141His&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">B&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">120&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">RS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Inverted nipples&#44; skeletal changes&#44; NPMD&#44; intellectual impairment&#44; ophthalmological alterations&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">PMM2-CDG &#40;AR&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">c&#46;193G&#62;T<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>c&#46;422G&#62;A<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>p&#46;Asp65Tyr<span class="elsevierStyleHsp" style=""></span>&#47;<span class="elsevierStyleHsp" style=""></span>p&#46;Arg141His&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">C&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">M&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">7&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">MG&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Not available&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">MPDU1-CDG &#40;AR&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Not available&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">D&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">24&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">RS&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Dysmorphisms&#44; NPMD&#44; seizures&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">SLC35A2 &#8211; CDG &#40;XL&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">c&#46;128<span class="elsevierStyleHsp" style=""></span>T<span class="elsevierStyleHsp" style=""></span>&#62;<span class="elsevierStyleHsp" style=""></span>C &#40;p&#46;Leu43Pro&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
              ]
              "imagenFichero" => array:1 [
                0 => "xTab2417681.png"
              ]
            ]
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">Characterization of individuals with a confirmed diagnosis of congenital disorders of glycosylation &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>4&#41;&#46;</p>"
        ]
      ]
      3 => array:8 [
        "identificador" => "tbl0015"
        "etiqueta" => "Table 3"
        "tipo" => "MULTIMEDIATABLA"
        "mostrarFloat" => true
        "mostrarDisplay" => false
        "detalles" => array:1 [
          0 => array:3 [
            "identificador" => "at0020"
            "detalle" => "Table "
            "rol" => "short"
          ]
        ]
        "tabla" => array:3 [
          "leyenda" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">TfIEF&#44; transferrin isoelectric focusing&#59; M&#44; male gender&#59; NPMD&#44; neuropsychomotor developmental delay&#59; CI&#44; confidence interval&#59; NC&#44; not calculated&#46;</p><p id="spar0050" class="elsevierStyleSimplePara elsevierViewall">For comparisons&#44; Pearson&#39;s chi-squared test was initially used with continuity correction&#44; or Fisher&#39;s exact test &#40;<span class="elsevierStyleSup">c</span>significant results&#44; p<span class="elsevierStyleHsp" style=""></span>&#60;<span class="elsevierStyleHsp" style=""></span>0&#46;05&#41;&#59; afterwards&#44; the crude prevalence ratio was calculated for the variables with p<span class="elsevierStyleHsp" style=""></span>&#60;<span class="elsevierStyleHsp" style=""></span>0&#46;05 and for the variables with significant differences in the crude prevalence ratio&#44; the adjusted prevalence ratio was calculated&#46; The variables in <span class="elsevierStyleBold">bold</span> are those with a statistically significant adjusted prevalence ratio&#46;</p><p id="spar0055" class="elsevierStyleSimplePara elsevierViewall"><span class="elsevierStyleSup">a</span>Comparison between cases with normal pattern and altered pattern in TfIEF&#46;</p>"
          "tablatextoimagen" => array:1 [
            0 => array:2 [
              "tabla" => array:1 [
                0 => """
                  <table border="0" frame="\n
                  \t\t\t\t\tvoid\n
                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Clinical manifestations&#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1546individuals&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Altered TfIEF pattern &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>51&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Normal TfIEF pattern &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>1495&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Crude prevalence ratio &#40;CI&#41;<span class="elsevierStyleSup">a</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th><th class="td" title="\n
                  \t\t\t\t\ttable-head\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Adjusted prevalence ratio &#40;CI&#41;<span class="elsevierStyleSup">a</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Median age &#40;months&#41; &#40;IQR&#58; 25&#8211;75&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">24 &#40;11&#8211;57&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">36 &#40;10&#8211;108&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Male gender &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>810&#47;1536<a class="elsevierStyleCrossRef" href="#tblfn0005"><span class="elsevierStyleSup">b</span></a>&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">27 &#40;54&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">783 &#40;52&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NPMD &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>625&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">27 &#40;53&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">598 &#40;40&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hypotonia &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>326&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">19 &#40;37&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">307 &#40;20&#37;&#41;<a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">2&#46;3 &#40;1&#46;3&#8211;4&#46;0&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&#46;5 &#40;0&#46;8&#8211;2&#46;8&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">Hepatopathy &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>131&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">18 &#40;35&#37;&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">113 &#40;7&#46;5&#37;&#41;</span><a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">6&#46;1 &#40;3&#46;5</span>&#8211;<span class="elsevierStyleBold">10&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">4&#46;6 &#40;2&#46;5</span>&#8211;<span class="elsevierStyleBold">8&#46;7&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Intellectual impairment &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>317&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">15 &#40;30&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">302 &#40;20&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Hepatomegaly &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>153&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">14 &#40;27&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">139 &#40;9&#37;&#41;<a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3&#46;5 &#40;1&#46;9&#8211;6&#46;5&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1&#46;1 &#40;0&#46;5&#8211;2&#46;3&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">Ophthalmological alterations &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>93&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">12 &#40;24&#37;&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">81 &#40;5&#46;4&#37;&#41;</span><a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">4&#46;9 &#40;2&#46;7</span>&#8211;<span class="elsevierStyleBold">9&#46;1&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">2&#46;8 &#40;1&#46;3</span>&#8211;<span class="elsevierStyleBold">6&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">Familial recurrence &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>115&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">11 &#40;22&#37;&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">104 &#40;6&#46;9&#37;&#41;</span><a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">3&#46;5 &#40;1&#46;8</span>&#8211;<span class="elsevierStyleBold">6&#46;7&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">2&#46;5 &#40;1&#46;3</span>&#8211;<span class="elsevierStyleBold">5&#46;1&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Seizures &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>412&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">9 &#40;18&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">403 &#40;27&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Dysmorphisms &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>302&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">9 &#40;18&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">293 &#40;20&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Feeding difficulties &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>214&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">8 &#40;16&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">206 &#40;14&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">Inverted nipples &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>17&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">8 &#40;16&#37;&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">9 &#40;0&#46;6&#37;&#41;</span><a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">17 &#40;9&#46;5</span>&#8211;<span class="elsevierStyleBold">31&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">11 &#40;4&#46;2</span>&#8211;<span class="elsevierStyleBold">29&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Ataxia &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>107&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">7 &#40;14&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">100 &#40;6&#46;7&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">Hypoglycemia &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>60&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">7 &#40;14&#37;&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">53 &#40;3&#46;5&#37;&#41;</span><a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">4&#46;0 &#40;1&#46;9</span>&#8211;<span class="elsevierStyleBold">8&#46;6&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t"><span class="elsevierStyleBold">2&#46;9 &#40;1&#46;3</span>&#8211;<span class="elsevierStyleBold">6&#46;9&#41;</span>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Cerebellar atrophy&#47;hypoplasia&#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>43&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">5 &#40;10&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">38 &#40;2&#46;5&#37;&#41;<a class="elsevierStyleCrossRef" href="#tblfn0010"><span class="elsevierStyleSup">c</span></a>&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3&#46;9 &#40;1&#46;6&#8211;9&#46;3&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">0&#46;3 &#40;0&#46;06&#8211;1&#46;6&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Parental consanguinity &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>97&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">3 &#40;6&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Microcephaly &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>66&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1 &#40;2&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Cardiomyopathy &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>42&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1 &#40;2&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">41 &#40;2&#46;7&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Nonimmune fetal hydrops &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>22&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1 &#40;2&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">21 &#40;1&#46;4&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">Skeletal alterations &#40;n<span class="elsevierStyleHsp" style=""></span>&#61;<span class="elsevierStyleHsp" style=""></span>9&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">1 &#40;2&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">8 &#40;0&#46;5&#37;&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="\n
                  \t\t\t\t\ttable-entry\n
                  \t\t\t\t  " align="left" valign="\n
                  \t\t\t\t\ttop\n
                  \t\t\t\t">NC&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
                  """
              ]
              "imagenFichero" => array:1 [
                0 => "xTab2417683.png"
              ]
            ]
          ]
          "notaPie" => array:2 [
            0 => array:3 [
              "identificador" => "tblfn0005"
              "etiqueta" => "b"
              "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Ten cases that did not specify gender&#46;</p>"
            ]
            1 => array:3 [
              "identificador" => "tblfn0010"
              "etiqueta" => "c"
              "nota" => "<p class="elsevierStyleNotepara" id="npar0010">p<span class="elsevierStyleHsp" style=""></span>&#60;<span class="elsevierStyleHsp" style=""></span>0&#46;05&#46;</p>"
            ]
          ]
        ]
        "descripcion" => array:1 [
          "en" => "<p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Summary of cases evaluated by serum transferrin isoelectric focusing at the Laboratory of Inborn Errors of Metabolism of Hospital de Cl&#237;nicas de Porto Alegre&#44; Brazil &#40;2008&#8211;2017&#41;&#46;</p>"
        ]
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "References"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0005"
          "bibliografiaReferencia" => array:20 [
            0 => array:3 [
              "identificador" => "bib0005"
              "etiqueta" => "1"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "A&#46; Al Teneiji"
                            1 => "T&#46;U&#46; Bruun"
                            2 => "S&#46; Sidky"
                            3 => "D&#46; Cordeiro"
                            4 => "R&#46;D&#46; Cohn"
                            5 => "R&#46; Mendoza-Londono"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Mol Genet Metab&#46;"
                        "fecha" => "2017"
                        "volumen" => "120"
                        "paginaInicial" => "235"
                        "paginaFinal" => "242"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0010"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Congenital disorders of glycosylation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "J&#46; Jaeken"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1111/j.1749-6632.2010.05840.x"
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann N Y Acad Sci&#46;"
                        "fecha" => "2010"
                        "volumen" => "1214"
                        "paginaInicial" => "190"
                        "paginaFinal" => "198"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21175687"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0015"
              "etiqueta" => "3"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Congenital disorders of glycosylation &#40;CDG&#41;&#58; quo vadis&#63;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "R&#46; P&#233;anne"
                            1 => "P&#46; de Lonlay"
                            2 => "F&#46; Foulquier"
                            3 => "U&#46; Kornak"
                            4 => "D&#46;J&#46; Lefeber"
                            5 => "E&#46; Morava"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.ejmg.2017.10.012"
                      "Revista" => array:6 [
                        "tituloSerie" => "Eur J Med Genet&#46;"
                        "fecha" => "2018"
                        "volumen" => "61"
                        "paginaInicial" => "643"
                        "paginaFinal" => "663"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29079546"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0020"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Screening and diagnosis of congenital disorders of glycosylation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "E&#46; Marklov&#225;"
                            1 => "Z&#46; Albahri"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.cca.2007.07.002"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Chim Acta&#46;"
                        "fecha" => "2007"
                        "volumen" => "385"
                        "paginaInicial" => "6"
                        "paginaFinal" => "20"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17716641"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0025"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The carbohydrate-deficient glycoprotein syndromes&#58; an overview"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46; Jaeken"
                            1 => "H&#46; Carchon"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/BF00714272"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "1993"
                        "volumen" => "16"
                        "paginaInicial" => "813"
                        "paginaFinal" => "820"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8295395"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Effect of separation conditions on automated isoelectric focusing of carbohydrate-deficient transferrin and other human isotransferrins using the phastsystem"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "R&#46; Hackler"
                            1 => "T&#46;O&#46; Kleine"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1006/abio.1995.1475"
                      "Revista" => array:6 [
                        "tituloSerie" => "Anal Biochem&#46;"
                        "fecha" => "1995"
                        "volumen" => "230"
                        "paginaInicial" => "281"
                        "paginaFinal" => "289"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7503419"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0035"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Secondary disorders of glycosylation in inborn errors of fructose metabolism"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "E&#46; Quintana"
                            1 => "L&#46; Sturiale"
                            2 => "R&#46; Montero"
                            3 => "F&#46; Andrade"
                            4 => "M&#46; Fernandez"
                            5 => "M&#46;L&#46; Couce"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2009"
                        "volumen" => "32"
                        "paginaInicial" => "S273"
                        "paginaFinal" => "8"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "8"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transferrin hypoglycosylation in hereditary fructose intolerance&#58; using the clues and avoiding the pitfalls"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46; Adamowicz"
                            1 => "R&#46; P&#322;oski"
                            2 => "D&#46; Rokicki"
                            3 => "E&#46; Morava"
                            4 => "M&#46; Gizewska"
                            5 => "H&#46; Mierzewska"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:4 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2007"
                        "volumen" => "30"
                        "paginaInicial" => "407"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "9"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The challenge of CDG diagnosis"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "R&#46; Francisco"
                            1 => "D&#46; Marques-da-Silva"
                            2 => "S&#46; Brasil"
                            3 => "C&#46; Pascoal"
                            4 => "V&#46; dos Reis Ferreira"
                            5 => "E&#46; Morava"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Mol Genet Metab"
                        "fecha" => "2019"
                        "volumen" => "126"
                        "paginaInicial" => "1"
                        "paginaFinal" => "5"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "10"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Keeping an eye on congenital disorders of O-glycosylation&#58; a systematic literature review"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "R&#46; Francisco"
                            1 => "C&#46; Pascoal"
                            2 => "D&#46; Marques-da-Silva"
                            3 => "E&#46; Morava"
                            4 => "G&#46;A&#46; Gole"
                            5 => "D&#46; Coman"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2019"
                        "volumen" => "42"
                        "paginaInicial" => "29"
                        "paginaFinal" => "48"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0055"
              "etiqueta" => "11"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Transferrin variants&#58; Pitfalls in the diagnostics of congenital disorders of glycosylation"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "A&#46; Z&#252;hlsdorf"
                            1 => "J&#46;H&#46; Park"
                            2 => "Y&#46; Wada"
                            3 => "S&#46; Rust"
                            4 => "J&#46; Reunert"
                            5 => "I&#46; DuChesne"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/j.clinbiochem.2014.09.022"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Biochem&#46;"
                        "fecha" => "2015"
                        "volumen" => "48"
                        "paginaInicial" => "11"
                        "paginaFinal" => "13"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25305627"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib0060"
              "etiqueta" => "12"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "What is new in CDG&#63;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46; Jaeken"
                            1 => "R&#46; P&#233;anne"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s10545-017-0068-9"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2017"
                        "volumen" => "40"
                        "paginaInicial" => "621"
                        "paginaFinal" => "625"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28653174"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0065"
              "etiqueta" => "13"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Congenital disorders of glycosylation &#40;CDG&#41;&#58; it&#8217;s &#40;nearly&#41; all in it&#33;"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "J&#46; Jaeken"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s10545-011-9299-3"
                      "Revista" => array:6 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2011"
                        "volumen" => "34"
                        "paginaInicial" => "853"
                        "paginaFinal" => "858"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/21384229"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0070"
              "etiqueta" => "14"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The prevalence of PMM2-CDG in Estonia based on population carrier frequencies and diagnosed patients"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "M&#46;A&#46; Vals"
                            1 => "S&#46; Pajusalu"
                            2 => "M&#46; Kals"
                            3 => "R&#46; M&#228;gi"
                            4 => "K&#46; &#213;unap"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "JIMD Reports&#46;"
                        "fecha" => "2017"
                        "volumen" => "39"
                        "paginaInicial" => "13"
                        "paginaFinal" => "17"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0075"
              "etiqueta" => "15"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Defective galactosylation of serum transferrin in galactosemia"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "J&#46; Charlwood"
                            1 => "P&#46; Clayton"
                            2 => "G&#46; Keir"
                            3 => "N&#46; Mian"
                            4 => "B&#46; Winchester"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/glycob/8.4.351"
                      "Revista" => array:6 [
                        "tituloSerie" => "Glycobiology&#46;"
                        "fecha" => "1998"
                        "volumen" => "8"
                        "paginaInicial" => "351"
                        "paginaFinal" => "357"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9499382"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0080"
              "etiqueta" => "16"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "L&#46; Sturiale"
                            1 => "R&#46; Barone"
                            2 => "A&#46; Fiumara"
                            3 => "M&#46; Perez"
                            4 => "M&#46; Zaffanello"
                            5 => "G&#46; Sorge"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1093/glycob/cwj021"
                      "Revista" => array:6 [
                        "tituloSerie" => "Glycobiology&#46;"
                        "fecha" => "2005"
                        "volumen" => "15"
                        "paginaInicial" => "1268"
                        "paginaFinal" => "1276"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16037488"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            16 => array:3 [
              "identificador" => "bib0085"
              "etiqueta" => "17"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The biochemical basis of hereditary fructose intolerance"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "N&#46; Bouteldja"
                            1 => "D&#46;J&#46; Timson"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2010"
                        "volumen" => "33"
                        "paginaInicial" => "105"
                        "paginaFinal" => "112"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            17 => array:3 [
              "identificador" => "bib0090"
              "etiqueta" => "18"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis&#58; are view of the literature of secondary causes of lysosomal enzyme activity elevation in serum"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "C&#46;R&#46; Ferreira"
                            1 => "J&#46;M&#46; Devaney"
                            2 => "S&#46;E&#46; Hofherr"
                            3 => "L&#46;M&#46; Pollard"
                            4 => "K&#46; Cusmano-Ozog"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1002/ajmg.a.38023"
                      "Revista" => array:6 [
                        "tituloSerie" => "Am J Med Genet A&#46;"
                        "fecha" => "2017"
                        "volumen" => "173"
                        "paginaInicial" => "501"
                        "paginaFinal" => "509"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27797444"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            18 => array:3 [
              "identificador" => "bib0095"
              "etiqueta" => "19"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Liver involvement in congenital disorders of glycosylation &#40;CDG&#41;&#46; A systematic review of the literature"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "D&#46; Marques-da-Silva"
                            1 => "V&#46; dos Reis Ferreira"
                            2 => "M&#46; Monticelli"
                            3 => "P&#46; Janeiro"
                            4 => "P&#46;A&#46; Videira"
                            5 => "P&#46; Witters"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Ihnerit Metab Dis&#46;"
                        "fecha" => "2017"
                        "volumen" => "40"
                        "paginaInicial" => "195"
                        "paginaFinal" => "207"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            19 => array:3 [
              "identificador" => "bib0100"
              "etiqueta" => "20"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Skin manifestations in CDG"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "D&#46; Rymen"
                            1 => "J&#46; Jaeken"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "J Inherit Metab Dis&#46;"
                        "fecha" => "2014"
                        "volumen" => "37"
                        "paginaInicial" => "699"
                        "paginaFinal" => "708"
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
    "agradecimientos" => array:1 [
      0 => array:4 [
        "identificador" => "xack490665"
        "titulo" => "Acknowledgements"
        "texto" => "<p id="par0135" class="elsevierStylePara elsevierViewall">The authors would like to thank their colleagues Zeniara Lompa&#44; R&#233;gis Guidobono&#44; Karen Lucas&#44; and T&#226;nia Braga&#44; from the staff of the HCPA Medical Genetics Service&#44; for their support of the study&#46; They are also grateful for the financial support provided by FIPE-HCPA&#46;</p>"
        "vista" => "all"
      ]
    ]
  ]
  "idiomaDefecto" => "en"
  "url" => "/00217557/0000009600000006/v1_202011070642/S0021755719306175/v1_202011070642/en/main.assets"
  "Apartado" => array:4 [
    "identificador" => "10179"
    "tipo" => "SECCION"
    "en" => array:2 [
      "titulo" => "Original articles"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "en"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/00217557/0000009600000006/v1_202011070642/S0021755719306175/v1_202011070642/en/main.pdf?idApp=UINPBA000049&text.app=https://jped.elsevier.es/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0021755719306175?idApp=UINPBA000049"
]