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Article

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.

BMJ open - 8 Apr 2016

Oder Daniel, Üçeyler Nurcan, Liu Dan, Hu Kai, Petritsch Bernhard, Sommer Claudia, Ertl Georg, Wanner Christoph, Nordbeck Peter

Abstract excerpt

OBJECTIVES: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. SETTING AND PARTICIPANTS: In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27059467
DOI: 10.1136/bmjopen-2015-010422
PMCID: PMC4838741

Genes

GLA

Variants

Provenance

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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