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Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

Molecular genetics and metabolism - 1 Apr 2012

Lu Yung-Hsiu, Huang Yu-Hsiu, Cheng Li-Mei, Yu Hsiao-Chi, Hsu Ju-Hui, Wu Tina Jui-Ting, Lo Ming-Yu, Lin Andrew, Lin Ching-Yuang, Wu Jer-Yuarn, Niu Dau-Ming

Abstract excerpt

The newborn screening of homocystinuria in Taiwan has never been formally reported before. Since 1984, out of 5 million newborns screened, only 3 newborns (Han Taiwanese) suffering from homocystinuria were detected in this newborn screening program. Four mutations (p.R121L [c.362G>T], p.E176K [c....

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PMID: 22353391
DOI: 10.1016/j.ymgme.2012.01.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-22353391-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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