Article
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates.
Scientific reports - 16 Jan 2018
Fu Chunyun, Luo Shiyu, Li Qifei, Xie Bobo, Yang Qi, Geng Guoxing, Lin Caijuan, Su Jiasun, Zhang Yue, Wang Jin, Qin Zailong, Luo Jingsi, Chen Shaoke, Fan Xin
Abstract excerpt
The aim of this study is to assess the disease incidence and mutation spectrum of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an optimal cutoff value to identify heterozygous female neonates. A total of 130, 635 neonates were screened from the year of 2013 to 2017. Neonates suspected for G6PD deficiency were further analyzed by quantitatively enzymatic assay and G6PD...
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