Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.

Abstract excerpt

Fabry's is a progressive, destructive and life threatening disease which reduces significantly life expectancy of the affected individual. It is a genetic disorder of X-linked inheritance caused by deficiency of lysosomal enzyme alpha-galactosidase A resulting in progressive accumulation of glycosphingolipids within different body cells. Fabry's deposits are defined histopathologically as lamellate membrane like...

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