Article
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
Clinical pharmacology and therapeutics - 1 Aug 2020
Lenders Malte, Nordbeck Peter, Kurschat Christine, Karabul Nesrin, Kaufeld Jessica, Hennermann Julia B, Patten Monica, Cybulla Markus, Müntze Jonas, Üçeyler Nurcan, Liu Dan, Das Anibh M, Sommer Claudia, Pogoda Christian, Reiermann Stefanie, Duning Thomas, Gaedeke Jens, Stumpfe Katharina, Blaschke Daniela, Brand Stefan-Martin, Mann W Alexander, Kampmann Christoph, Muschol Nicole, Canaan-Kühl Sima, Brand Eva
Abstract excerpt
Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous α-Gal A activity. We assessed safety along with...
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