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Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021

Fabry disease (FD) is an X-linked inherited disorder caused by mutations in the GLA gene encoding enzyme alpha-galactosidase A (α-Gal A). The purpose of this study was to produce a consensus statement to standardize the recommendations concerning kidney involvement in FD and provide advice on the di...

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Detalles Bibliográficos
Autores principales: Silva, Cassiano Augusto Braga, de Andrade, Luis Gustavo Modelli, Vaisbich, Maria Helena, Barreto, Fellype de Carvalho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Nefrologia 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269181/
https://www.ncbi.nlm.nih.gov/pubmed/35212703
http://dx.doi.org/10.1590/2175-8239-JBN-2021-0208