[Fabry disease (alpha-galactosidase deficiency)].

Abstract excerpt

Fabry disease is an X-linked glycosphingolipid storage disorder resulting from a deficiency of lysosomal alpha-galactosidase (alpha-Gal; EC 3.2.1.22). Classical form patients, with clinical manifestations of generalized angiopathy of early onset, usually show no detectable alpha-Gal activity. There are also atypical form patients with residual alpha-Gal activity and late onset cardiomyopathy without other...

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