Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children

Background: Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninemia (HPA). The incidence of this condition varies based on region and ethnicity. In the early stages, patients typically do not exhibit any symptoms, and HPA is identified only through newborn screening for disease...

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Bibliographic Details
Main Authors: Shuyao Zhu, Qi Hu, Yunxia Yang, Hui Zhu, Jin Wang, Zemin Luo, Mincai Ou, Ai Chen, Yu Huang, Fu Xiong, Jiaji Zhou, Jinglin Liu, Xunming Lei, Lan Zeng
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Heliyon
Subjects:
Tetrahydrobiopterin (BH4) -deficient
PTS
QDPR
Tibetan
Case report
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024030810

Internet

http://www.sciencedirect.com/science/article/pii/S2405844024030810

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