Article
Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity.
Molecular genetics and metabolism - 1 Jan 2000
Nowak Albina, Dormond Olivier, Monzambani Véronique, Huynh-Do Uyen, Barbey Frédéric
Abstract excerpt
BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene leading to deficiency of α-galactosidase A (α-gal A). This results in progressive multisystemic glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3). Enzyme replacement therapy with two recombinant enzymes, agalsidase-α and -β...
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