Article
Fabry Disease and Its Different Phenotypes.
Arquivos brasileiros de cardiologia - 1 Mar 2025
Antunes Murillo Oliveira, Nastari Rafael Ruas, Arteaga-Fernandez Edmundo, Lizandro Marcelle G Henriques, El-Feghaly William Batah, Ferreira Guilherme José Dos Santos, Martins Alan Silva, Leguizamon Juliana Alzira Gonzales Oliveira, Correia Vinicius Machado, Madrini Junior Vagner, Fernandes Fábio
Abstract excerpt
Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) in tissues such as the heart, kidneys, and the nervous system. This study reports a case series of patients with FD, highlighting the phenotypic diversity of the disease, which can be confused with other cardiological conditions. When...
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