Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses
- 1 April 2001
- journal article
- review article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 24 (S2) , 107-123
- https://doi.org/10.1023/a:1012496514170
Abstract
Gaucher disease is a typical lysosomal storage disease, resulting from an inborn deficiency of glucocerebrosidase. This leads to the accumulation of glycolipidsin macrophages, particularly those in t...Keywords
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