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Article

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

Journal of inherited metabolic disease - 1 Jun 2010

Taddei Tamar H, Dziura James, Chen Shu, Yang Ruhua, Hyogo Hideyuki, Sullards Cameron, Cohen David E, Pastores Gregory, Mistry Pramod K

Abstract excerpt

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 nature of stones, their association with metabolic parameters, and whether bile composition is altered are not...

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Identifiers

PMID: 20354791
DOI: 10.1007/s10545-010-9070-1
PMCID: PMC3008397

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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