Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population

Inborn errors of metabolism (IEMs) often causing progressive and irreversible neurological damage, physical and intellectual development lag or even death, and serious harm to the family and society. The screening of neonatal IEMs by tandem mass spectrometry (MS/MS) is an effective method for early...

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Bibliographic Details
Main Authors: Jianqiang Tan, Dayu Chen, Rongni Chang, Lizhen Pan, Jinling Yang, Dejian Yuan, Lihua Huang, Tizhen Yan, Haiping Ning, Jiangyan Wei, Ren Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
disease spectrum
genetic characteristics
genetic mutation
incidence of IEMs
inborn errors of metabolism
tandem mass spectrometry
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.631688/full

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