Title: Gaucher disease: lessons from a decade of therapy
Abstract: Gaucher disease is the most common lysosomal storage disorder, and results from the defective activity of the enzyme acid β-glucosidase (glucocerebrosidase), a lysosomal glycoprotein. Lack of this lysosomal hydrolase activity causes the accumulation of glucosylceramide (glucocerebroside) primarily within macrophages of the viscera (Figure), leading to hepatosplenomegaly, destructive bone disease, lung involvement, and pancytopenias. 1. Beutler E. Grabowski G. Gaucher disease. in: Scriver C.R. Beaudet A.L. Sly W.S. Metabolic and molecular bases of inherited disease. McGraw Hill, New York2001 Google Scholar In <5% of cases, there is neuronopathic involvement.
Publication Year: 2004
Publication Date: 2004-05-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 53
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