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Article

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

Jornal brasileiro de nefrologia - 1 Jan 2000

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

Abstract excerpt

INTRODUCTION: Fabry disease (FD) is an inborn error of metabolism characterized by α-galactosidase A deficiency. The primary objective was to evaluate the genetic and phenotypic profile of Fabry disease in hemodialysis. METHODS: Observational cohort study to determine the incidence of genetic variations and phenotypic changes for FD in hemodialysis patients in the Paraiba Valley and Eastern São Paulo. Genetic...

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Identifiers

PMID: 36745055
DOI: 10.1590/2175-8239-JBN-2022-0107en
PMCID: PMC10726653

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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