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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Human mutation - 1 Oct 2009

Hwu Wuh-Liang, Chien Yin-Hsiu, Lee Ni-Chung, Chiang Shu-Chuan, Dobrovolny Robert, Huang Ai-Chu, Yeh Hui-Ying, Chao May-Chin, Lin Shio-Jean, Kitagawa Teruo, Desnick Robert J, Hsu Li-Wen

Abstract excerpt

Fabry disease (alpha-galactosidase A (alpha-Gal A, GLA) deficiency) is a panethnic inborn error of glycosphingolipid metabolism. Because optimal therapeutic outcomes depend on early intervention, a pilot program was designed to assess newborn screening for this disease in 171,977 consecutive Taiwanese newborns by measuring their dry blood spot (DBS) alpha-Gal A activities and beta-galactosidase/alpha-Gal A...

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Source

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Identifiers

PMID: 19621417
DOI: 10.1002/humu.21074
PMCID: PMC2769558

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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