Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expande...

Full description

Bibliographic Details
Main Authors: Ting Wang, Jun Ma, Qin Zhang, Ang Gao, Qi Wang, Hong Li, Jingjing Xiang, Benjing Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Genetics
Subjects:
expanded newborn screening
inborn errors of metabolism
tandem mass spectrometry
disease spectrum
prevalence
genetic characteristics
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01052/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2019.01052/full

Similar Items