[Gaucher disease: achievements and prospects].

Abstract excerpt

Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids. The phenomenal progress in understanding the pathogenesis and development of specific therapy of this disease over the past 60 years dramatically changed the clinical phenotype of GD, turning a severe...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gaucher Disease
• Share to Glucosylceramidase
• Share to Phenotype