Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease
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Cited by (15)
Lysosomal acid lipase deficiency in pediatric patients: a scoping review
2022, Jornal de PediatriaCitation Excerpt :The median age at death for Wolman disease was four months, similar to the median life expectancy reported by Jones et al.5 In seven patients (3.64%), an incidental diagnosis was made during a surgical procedure, which should serve as a warning about the current underdiagnosis and the need for attention from the pediatricians responsible for these patients' care. Although the investigation was initiated due to the macroscopic liver characteristics found during the surgery, these patients had previous laboratory and clinical anomalies prior to the surgical procedure which had not been valued by the attending physicians.2,54-56,61,65,112,114 The long gap between the first symptoms of the disease and the diagnosis is explained by a lack of awareness and knowledge about LAL-D.123
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
2013, Journal of HepatologyCitation Excerpt :There were 65 patients for whom HDL-cholesterol levels were reported, ranging from 8 to 50 mg/dl; 71% had HDL-cholesterol levels between 20 and 40 mg/dl, and 18% had levels below 20 mg/dl, while 11% had levels >40 mg/dl. Interestingly, at least 10 kindred were reported in which first-degree relatives of the probands who were obligate heterozygotes, as well as heterozygotes detected by E8SJM−1G>A screening, had significantly elevated serum total cholesterol levels [12,13,49,61–71,131]. Several reports documented the presence of coronary artery disease or atherosclerosis in the parents of affected patients, though few heterozygotes had known concomitant liver disease [49,67].
Lysosomal acid lipase deficiency: A form of non-obese fatty liver disease (NOFLD)
2017, Expert Review of Gastroenterology and HepatologyWolman disease/cholesteryl ester storage disease
2011, Atlas of Inherited Metabolic Diseases: Third Edition