Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770456/
https://www.ncbi.nlm.nih.gov/pubmed/29339739
http://dx.doi.org/10.1038/s41598-017-17667-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770456/
https://www.ncbi.nlm.nih.gov/pubmed/29339739
http://dx.doi.org/10.1038/s41598-017-17667-6

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