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Article

Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.

Circulation. Cardiovascular genetics - 1 Feb 2014

Niemann Markus, Rolfs Arndt, Störk Stefan, Bijnens Bart, Breunig Frank, Beer Meinrad, Ertl Georg, Wanner Christoph, Weidemann Frank

Abstract excerpt

BACKGROUND: Currently, no method is available to identify α-galactosidase A (agalA) mutations determining clinically relevant Fabry disease. In our largest European Fabry cohort, we investigated whether a biomarker, specific for the defect, could stratify persons at risk. METHODS AND RESULTS: A total of 124 individuals with agalA mutations were investigated with a comprehensive clinical workup, genetic analysis,...

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Identifiers

PMID: 24395922
DOI: 10.1161/CIRCGENETICS.113.000249

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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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