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Article

High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.

Molecular genetics and metabolism - 1 Apr 2014

Lee Sheng-Hung, Li Cheng-Fang, Lin Hsiang-Yu, Lin Chien-Hsing, Liu Hao-Chuan, Tsai Shih-Feng, Niu Dau-Ming

Abstract excerpt

BACKGROUND: In view of the therapeutic benefits resulting from early intervention for Fabry disease, our team has implemented an enzyme-based newborn screening in Taiwan since 2008. However, we found that most heterozygous females cannot be detected. To improve the screening efficiency, a more ef...

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Source

Identifiers

PMID: 24613481
DOI: 10.1016/j.ymgme.2014.02.004

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24613481-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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