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Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.

Molecular genetics and metabolism - 1 Feb 2018

Liao Hsuan-Chieh, Hsu Ting-Rong, Young Leslie, Chiang Chuan-Chi, Huang Chun-Kai, Liu Hao-Chuan, Niu Dau-Ming, Chen Yann-Jang

Abstract excerpt

Fabry disease is an X-linked disorder resulted from deficiency of α-galactosidase A (GLA) activity. In Taiwan, a total of 792,247 newborns were screened from 2008 to 2014 in two newborn screening centers, and 13 variants of uncertain significance (VOUS) in the GLA gene were identified. To determine whether these variants were pathogenic or not, functional, biochemical, clinical and pedigree analyses were...

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Source

Identifiers

PMID: 28615118
DOI: 10.1016/j.ymgme.2017.06.002

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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