Multidisciplinary Management of Fabry Disease: Current Perspectives

Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (α-GalA) caused by a GLA gene variant. The progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in organs su...

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Detalles Bibliográficos
Autores principales: Paim-Marques, Luciana, de Oliveira, Rodrigo Joel, Appenzeller, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922235/
https://www.ncbi.nlm.nih.gov/pubmed/35300178
http://dx.doi.org/10.2147/JMDH.S290580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922235/
https://www.ncbi.nlm.nih.gov/pubmed/35300178
http://dx.doi.org/10.2147/JMDH.S290580

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