Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China

Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China

The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase (PTS) gene vary widely according to race and region. This study assessed the prevalence and genetic characteristics of BH4D in Fujian Province, southeaster...

Full description

Bibliographic Details
Main Authors: Xiaolong Qiu, Peiran Zhao, Jinying Luo, Guilin Li, Lin Deng, Yinglin Zeng, Liangpu Xu, Jinfu Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
tetrahydrobiopterin deficiency
newborn screening
6-pyruvoyl-tetrahydropterin synthase
variant spectrum
southeastern China
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1250568/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1250568/full

Similar Items