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Autor:
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
Publikováno v:
Global Health, Epidemiology and Genomics, Vol 2024 (2024)
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 wi
Externí odkaz:
https://doaj.org/article/54f524d81b274994b15b5d1a1d6e49d5
