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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 (Author), Santiago Alonso (Author), Mónica Calvo (Author), Sebastián Fernandez (Author), Heber Figueredo (Author), Beatriz Galli (Author), Ivanna Marin (Author), Andrés Martinez (Author), Silvia Mattausch (Author), Fernando Perretta (Author), Juan Politei (Author), Juan Ignacio Rolon (Author), Esteban Calabrese (Author)
Format: Book
Published: Hindawi - Cambridge University Press, 2024-01-01T00:00:00Z.
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