Autor: Juan Manuel Politei
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Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study
IntroductionFabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatme…