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Article

[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Apr 2008

Ye Jun, Qiu Wen-juan, Han Lian-shu, Zhang Hui-wen, Zhou Jian-de, Gao Xiao-lan, Wang Yu, Gu Xue-fan

Abstract excerpt

OBJECTIVE: The 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is the most common type of tetrahydrobiopterin (BH4) deficiency. The reported patients with BH4 deficiency are all PTPS deficient found in the mainland of China previously. The activity of dihydropteridine reductase in BH4 metabolism has been determined for 902 patients with hyperphenylalaninemia in the authors' laboratory since 2003. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19099731

Genes

QDPR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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