Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

<h4>Background and aims</h4>Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated. This research aimed to evaluate the...

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Main Authors: Minyi Tan, Xiulian Liu, Yinhong Zhang, Yifan Yin, Ting Chen, Yulin Li, Lulu Feng, Bo Zhu, Chunjing Xu, Chengfang Tang, Meng Sun, Liyun Jia, Weiwei Jin, Chunna Fan, Hui Huang, Xiaohua Wang, Jizhen Feng, Hui Zou, Lianshu Han, Jingkun Miao, Baosheng Zhu, Cidan Huang, Yonglan Huang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0310517
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https://doi.org/10.1371/journal.pone.0310517

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