Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Fabry disease (FD) is a multisystem lysosomal storage disorder induced by genetic variants in the alpha-galactosidase A (αGalA) gene. Some FD patients have GLA variants with a reduction in overall αGalA enzymatic activity due to mutated proteins with reduced stability, caused by protein misfolding a...

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Main Authors: Sebastián Jaurretche, Santiago Alonso, Mónica Calvo, Sebastián Fernandez, Heber Figueredo, Beatriz Galli, Ivanna Marin, Andrés Martinez, Silvia Mattausch, Fernando Perretta, Juan Politei, Juan Ignacio Rolon, Esteban Calabrese
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Global Health, Epidemiology and Genomics
Online Access:http://dx.doi.org/10.1155/2024/9293896
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