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Article

Prevalence of Fabry disease-causing variants in the UK Biobank.

Journal of medical genetics - 1 Apr 2023

Gilchrist Mark, Casanova Francesco, Tyrrell Jess S, Cannon Stuart, Wood Andrew R, Fife Nicole, Young Katherine, Oram Richard A, Weedon Michael N

Abstract excerpt

BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement. Global prevalence estimates of Fabry disease based on clinical ascertainment range from 1 in 40 000 to 1 in 170 000. We aimed to determine the prevalence of...

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Identifiers

PMID: 35977816
DOI: 10.1136/jmg-2022-108523
PMCID: PMC10086508

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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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