Original articleCholesterol ester storage disease: Clinical, biochemical, and pathological studies†
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Cited by (77)
Developmental and Inherited Liver Disease
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2018, MacSween's Pathology of the LiverWolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency
2017, The Lancet Gastroenterology and HepatologyCitation Excerpt :In 1968, Schiff and colleagues34 described six siblings; the eldest brother (aged 19 years) and sister (aged 15 years) were found to have so-called orange livers, septate cirrhosis, and excess deposition of cholesteryl esters, whereas the four younger siblings showed milder changes. In 1977, Beaudet and colleagues12 reported the case of three sisters diagnosed with cholesteryl ester storage disorder, two of whom died of hepatic failure at the ages 7 and 9 years. In the following 20 years, further cases of cholesteryl ester storage disorder started emerging around the world, including in Argentina,16 Czech Republic,35 France,36 Germany,24 Ireland,13 North America,20 and Thailand.23
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Supported by General Clinical Research Center RR-00188 and National Foundation-March of Dimes Grant C-181.
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Dr. Beaudet is a Howard Hughes Medical Institute Investigator.