Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum

Autor: Li Hui, Ch'ih Yah, Li Meiling, Luo Yulei, Liu Hao, Xu Junyang, Song Wangsheng, Ma Qingqing, Shao Ziyu

Publikováno v: Journal of Medical Biochemistry, Vol 43, Iss 1, Pp 86-96 (2024)

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive Mendelian genetic disorder characterized by neonatal jaundice and hemolytic anemia, affecting more than 400 million people worldwide. The purpose of this researc

Externí odkaz: https://doaj.org/article/64cfda4107e944d997c530c1b3ef7612

Prevalence and Mutation Analysis of Short-Chain acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening in Hefei, China.

Autor: Hu H; Anhui Women and Children's Medical Center, Hefei 230001, China.; Department of Children's Health, Maternal and Child Medical Center, Anhui Medical University, Hefei 230001, China., Ma Q; Hefei Women and Children Health Center, Hefei 230092, China., Li W; Hefei Women and Children Health Center, Hefei 230092, China., Wang Y; Hefei Women and Children Health Center, Hefei 230092, China., Song W; Hefei Women and Children Health Center, Hefei 230092, China., Huang Y; Anhui Women and Children's Medical Center, Hefei 230001, China.; Department of Children's Health, Maternal and Child Medical Center, Anhui Medical University, Hefei 230001, China.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2024 Oct 02; Vol. 10 (4). Date of Electronic Publication: 2024 Oct 02.