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Article

Anderson-Fabry disease and the heart.

Progress in cardiovascular diseases - 1 Jan 2000

O'Mahony Constantinos, Elliott Perry

Abstract excerpt

Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, c...

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Source

Identifiers

PMID: 20109602
DOI: 10.1016/j.pcad.2009.11.002

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20109602-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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