Home > LILACS - Literatura Latinoamericana y del Caribe de Ciencias de la Salud > Search result

Results: 2

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

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.
J. bras. nefrol; 43 (1), 2021
ABSTRACT 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 prevale...
Estudios Transversales, Enfermedad de Fabry/epidemiología, Enfermedad de Fabry/genética, Familia, Mutación, Calidad de Vida, Insuficiencia Renal Crónica/epidemiología, Insuficiencia Renal Crónica/genética
Fulltext