[Molecular pathology and clinical manifestations of Fabry disease].

Abstract excerpt

Fabry disease is a rare, progressive lysosomal storage disorder caused by mutation in the GAL gene and an impaired function of the alpha-galactosidase A enzyme. The enzymatic defect results in the progressive accumulation of glycosphingolipids in endothelial cells, smooth muscle cells, leucocytes and fibroblasts leading to organ damage in the skin, eye, nervous system, kidney and heart. Major clinical...

Topics

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

• Share to Brain Ischemia
• Share to Child