Browsing by Author "Daniel, Bichet."
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Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Dominique, Germain.; Derralynn, Hughes.; Kathleen, Nicholls.; Daniel, Bichet.; Giugliani, Roberto.; Wilcox, William.; Amartino, Hernán.; et al. (Massachusetts Medical Society, 2016-08-11)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 ...