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

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

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 metabol...

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Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 46(2008), 4 vom: 22. Apr., Seite 281-5
1. Verfasser: Ye, Jun (VerfasserIn)
Weitere Verfasser: Qiu, Wen-juan, Han, Lian-shu, Zhang, Hui-wen, Zhou, Jian-de, Gao, Xiao-lan, Wang, Yu, Gu, Xue-fan
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports English Abstract Journal Article Research Support, Non-U.S. Gov't Phenylalanine 47E5O17Y3R Dihydropteridine Reductase EC 1.5.1.34 Phosphorus-Oxygen Lyases EC 4.6.- mehr... 6-pyruvoyltetrahydropterin synthase EC 4.6.10