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

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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Bibliographic Details
Main Authors: Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-04-01
Series:Frontiers in Genetics
Subjects:
newborn screening
inborn errors of metabolism
incidence of IEMs
IEMs-associated gene mutation
Online Access:http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/full

Internet

http://journal.frontiersin.org/article/10.3389/fgene.2018.00122/full

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