Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

INTRODUCTION: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. OBJECTIVES: to evaluate the prevalence of...

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Detalles Bibliográficos
Autores principales: Sodré, Luciana Senra de Souza, Huaira, Rosália Maria Nunes Henriques, Colugnati, Fernando Antônio Basile, Carminatti, Moises, Braga, Luciane Senra de Souza, Coutinho, Marcelo Paula, Fernandes, Natália Maria da Silva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Nefrologia 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061964/
https://www.ncbi.nlm.nih.gov/pubmed/32930322
http://dx.doi.org/10.1590/2175-8239-JBN-2020-0080

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