Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

• Published in: Frontiers in genetics Vol. 9; p. 122
• Main Authors: Guo, Kejian, Zhou, Xuan, Chen, Xigui, Wu, Yili, Liu, Chuanxin, Kong, Qingsheng
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 20.04.2018
• Subjects: Genetics; IEMs-associated gene mutation; inborn errors of metabolism; incidence of IEMs; newborn screening; inborn errors of metabolism; IEMs-associated gene mutation; newborn screening; incidence of IEMs

The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and deat...