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Article

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.

The American journal of case reports - 9 May 2016

Ozelsancak Ruya, Uyar Bulent

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. CASE REPORT: We report...

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Identifiers

PMID: 27156739
DOI: 10.12659/ajcr.897024
PMCID: PMC4913751

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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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