Article
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
JPMA. The Journal of the Pakistan Medical Association - 1 Feb 2014
Mahmud Huma Mamun
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...
Topics
- Diagnostic Imaging
- Enzyme Replacement Therapy
- Fabry Disease
- Genetic Predisposition to Disease
- Genetic Testing
- Genotype
- Humans
- Recombinant Proteins
- alpha-Galactosidase