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

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...

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Autors principals:	Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2018-04-01
Col·lecció:	Frontiers in Genetics
Matèries:	newborn screening inborn errors of metabolism incidence of IEMs IEMs-associated gene mutation
Accés en línia:	http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/full
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