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)

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)

Abstract 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 involvem...

Full description

Bibliographic Details
Main Authors: Maria Helena Vaisbich, Luís Gustavo Modelli de Andrade, Cassiano Augusto Braga Silva, Fellype de Carvalho Barreto
Format: Article
Language:English
Published: Sociedade Brasileira de Nefrologia 2022-02-01
Series:Brazilian Journal of Nephrology
Subjects:
Fabry Disease
Consensus
Rare Diseases
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002022005016401&tlng=pt

Similar Items

Similar Items