Gaucher Disease

doi:10.2106/00004623-200105000-00016

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Article

Gaucher Disease

1 May 2001

Abstract excerpt

Gaucher disease is an uncommon autosomal genetic disorder characterized by the deposit of large amounts of a lipid, glucosylceramide, in the cells of the spleen, liver, and bone marrow. The disease occurs because of a genetic fault in the production of a specific enzyme, β-glucosidase, which ordinarily destoys the lipid material. Bone disease consists of a failure to remodel (Erlenmeyer-flask deformity),...

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PMID: 11379747
DOI: 10.2106/00004623-200105000-00016

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