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Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening.

Nephron - 1 Jan 2016

Silva Cassiano Augusto Braga, Barreto Fellype Carvalho, Dos Reis Marlene Antonia, Moura Junior José Andrade, Cruz Constança Margarida Sampaio

Abstract excerpt

INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder caused by enzyme α galactosidase A (α-Gal A) deficiency due to mutations in the galactosidase alpha (GLA) gene. It leads to damage several organs, such as the kidneys, due to progressive accumulation of glycosphingolipids. OBJECTIVE: To estimate the prevalence of FD among male hemodialysis (HD) patients in a northern state of Brazil. METHODS:...

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PMID: 27576502
DOI: 10.1159/000448740

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GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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