Article
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.
PloS one - 1 Jan 2024
Tan Minyi, Liu Xiulian, Zhang Yinhong, Yin Yifan, Chen Ting, Li Yulin, Feng Lulu, Zhu Bo, Xu Chunjing, Tang Chengfang, Sun Meng, Jia Liyun, Jin Weiwei, Fan Chunna, Huang Hui, Wang Xiaohua, Feng Jizhen, Zou Hui, Han Lianshu, Miao Jingkun, Zhu Baosheng, Huang Cidan, Huang Yonglan
Abstract excerpt
BACKGROUND AND AIMS: 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 outcomes of application of combined genetic and biochemical NBS for G6PD deficiency and to investigate the molecular epidemiological...
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