Current and experimental therapeutics for Fabry disease

Abstract excerpt

Fabry (or Anderson-Fabry) is a rare pan-ethnic disease affecting males and females. Fabry is an X-linked lysosomal storage disease, affecting glycosphingolipid metabolism, that is caused by mutations of the GLA gene that codes for α-galactosidase A. Fabry disease (FD) can be classified into a severe, classical phenotype, most often seen in men with no residual enzyme activity, that usually appear before 18 years...

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