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Article

High incidence of later-onset fabry disease revealed by newborn screening.

American journal of human genetics - 1 Jul 2006

Spada Marco, Pagliardini Severo, Yasuda Makiko, Tukel Turgut, Thiagarajan Geetha, Sakuraba Hitoshi, Ponzone Alberto, Desnick Robert J

Abstract excerpt

The classic phenotype of Fabry disease, X-linked alpha -galactosidase A (alpha -Gal A) deficiency, has an estimated incidence of approximately 1 in 50,000 males. The recent recognition of later-onset variants suggested that this treatable lysosomal disease is more frequent. To determine the disea...

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Identifiers

PMID: 16773563
DOI: 10.1086/504601
PMCID: PMC1474133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16773563-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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