Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, which is caused by pathogenic variants of G6PD that result in decreased G6PD activity, is an X-linked inherited inborn error of metabolism that occurs worldwide. Individuals with G6PD deficiency and heterozygous females with normal G6PD activity (...

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Bibliographic Details
Main Authors: Zhongmin Xia, Xudong Wang, Huiming Ye, Chunliu Gao, Xiaoman Zhou, Jing Chen, Yunsheng Ge, Juan Li, Yulin Zhou, Qiwei Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Genetics
Subjects:
G6PD deficiency
enzymatic activity
genotyping
cost analysis
diagnostic performance
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.844381/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.844381/full

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