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- Title
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.
- Authors
Taddei, Tamar H; Dziura, James; Chen, Shu; Yang, Ruhua; Hyogo, Hideyuki; Sullards, Cameron; Cohen, David E; Pastores, Gregory; Mistry, Pramod K
- Abstract
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 nature of stones, their association with metabolic parameters, and whether bile composition is altered are not understood. We assessed the prevalence of GS, their chemical composition, biliary lipids, and associated metabolic factors.
- Publication
Journal of inherited metabolic disease, 2010, Vol 33, Issue 3, p291
- ISSN
1573-2665
- Publication type
Journal Article
- DOI
10.1007/s10545-010-9070-1