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High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease

BACKGROUND: In Gaucher disease (GD), lysosomal glucocerebrosidase deficiency results in glucosylceramide accumulation in macrophage lysosomes. Hepatocytes do not accumulate glucosylceramide due in part to biliary secretion. Although gallstones (GS) occur in type 1 Gaucher disease (GD1), the chemical...

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Autori principali: Taddei, Tamar H., Dziura, James, Chen, Shu, Yang, Ruhua, Hyogo, Hideyuki, Sullards, Cameron, Cohen, David E., Pastores, Gregory, Mistry, Pramod K.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3008397/
https://ncbi.nlm.nih.gov/pubmed/20354791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9070-1
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