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Recommendations for the diagnosis and management of Fabry disease in pediatric patients: a document from the Rare Diseases Committee of the Brazilian Society of Nephrology (Comdora-SBN)

Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. The purpose of the present study was to create a consensus aiming to standardize the recommendations regarding the renal involvement of FD...

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Detalles Bibliográficos
Autores principales:	Vaisbich, Maria Helena, de Andrade, Luís Gustavo Modelli, Silva, Cassiano Augusto Braga, Barreto, Fellype de Carvalho
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Nefrologia 2022
Materias:	Brazilian Society of Nephrology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9269176/ https://www.ncbi.nlm.nih.gov/pubmed/35238862 http://dx.doi.org/10.1590/2175-8239-JBN-2021-0216

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