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Article

Case-finding in Fabry disease: experience from the North of England.

Journal of inherited metabolic disease - 1 Jan 2014

Brennan Paul, Parkes Oliver

Abstract excerpt

The advent of effective therapy for Fabry disease (FD) creates two challenges: (1) how do we identify individuals with the condition early in its natural history, and (2) how many people have the condition and require expensive therapy? Between 1981 and 2011, 17 new FD families were referred to t...

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Identifiers

PMID: 23828401
DOI: 10.1007/s10545-013-9629-8

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23828401-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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