Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

Abstract excerpt

Abstract: Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enzyme activity (REA) and on the metabolic load of the disease, but organ susceptibility to damage varies...

Topics

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

• Share to Carbohydrate Chemistry and Synthesis
• Share to Lysosomal Storage Disorders Research
• Share to Trypanosoma species research and implications