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Article

Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation.

Arquivos brasileiros de cardiologia - 1 Aug 2015

Baptista Ana, Magalhães Pedro, Leão Sílvia, Carvalho Sofia, Mateus Pedro, Moreira Ilídio

Abstract excerpt

BACKGROUND: Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. OBJECTIVE: To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. METHODS: The patients were assessed for the presence of left ventricular...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 26269958
DOI: 10.5935/abc.20150090
PMCID: PMC4559122

Genes

GLA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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