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.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat / 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. - In: NEW ENGLAND JOURNAL OF MEDICINE. - ISSN 0028-4793. - 375:6(2016), pp. 545-55-555. [10.1056/NEJMoa1510198]

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

FELICIANI, Claudio;LONGO, NICOLA;
2016

Abstract

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.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat / 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. - In: NEW ENGLAND JOURNAL OF MEDICINE. - ISSN 0028-4793. - 375:6(2016), pp. 545-55-555. [10.1056/NEJMoa1510198]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2811316
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