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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, cardiac, and cerebrovascular disease. Female carriers are at risk of developing disease, but this tends to be milder and...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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