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[Studies on neonatal screening, clinical and gene analysis for tetrahydrobiopterin deficiency in Southern Chinese].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2001

Ye J, Liu X, Ma X, Huang X, Zhang Y, Gu X, Chen R

Abstract excerpt

OBJECTIVE: To find out the incidence of tetrahydrobiopterin deficiency(BH4D) among patients with hyperphenylalaninemia in Southern Chinese and evaluate the clinical outcome and gene mutations of tetrahydrobiopterin deficient patients. METHODS: Analyses of urinary neopterin(N) and biopterin(B) wer...

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PMID: 11295124

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11295124-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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