Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.

Osvaldo Theodoro da Paz Rosiane Cássia Teixeira Lacerda Luís Gustavo Modelli de Andrade

Published in: Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia (2023)

We characterized an extensive population of patients with FD variants with rich genetic, clinical and biomarker details. We believe that this study can help to better characterize the Brazilian population with FD and the most frequent types of variants.

Keyphrases

copy number
genome wide
heart failure
gene expression
hypertrophic cardiomyopathy
left ventricular