Article
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
The New England journal of medicine - 11 Aug 2016
Germain Dominique P, Hughes Derralynn A, Nicholls Kathleen, Bichet Daniel G, Giugliani Roberto, Wilcox William R, Feliciani Claudio, Shankar Suma P, Ezgu Fatih, Amartino Hernan, Bratkovic Drago, Feldt-Rasmussen Ulla, Nedd Khan, Sharaf El Din Usama, Lourenco Charles M, Banikazemi Maryam, Charrow Joel, Dasouki Majed, Finegold David, Giraldo Pilar, Goker-Alpan Ozlem, Longo Nicola, Scott C Ronald, Torra Roser, Tuffaha Ahmad, Jovanovic Ana, Waldek Stephen, Packman Seymour, Ludington Elizabeth, Viereck Christopher, Kirk John, Yu Julie, Benjamin Elfrida R, Johnson Franklin, Lockhart David J, Skuban Nina, Castelli Jeff, Barth Jay, Barlow Carrolee, Schiffmann Raphael
Abstract excerpt
BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The initial assay of mutant α-galactosidase forms that we used to categorize 67 patients with Fabry's disease for...
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