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Gaucher disease is caused by mutations in the gene encoding acid beta-glucosidase (GlcCerase), resulting in glucosylceramide (GlcCer) accumulation. The only currently available orally administered(More)
Gaucher disease, the most common lysosomal storage disease, is caused by the defective activity of acid b-glucosidase (b-glucocerebrosidase, GlcCerase; EC 3.2.1.45), resulting in accumulation of(More)