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...

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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Wang, Ting, Ma, Jun, Zhang, Qin, Gao, Ang, Wang, Qi, Li, Hong, Xiang, Jingjing, Wang, Benjing
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6828960/
https://ncbi.nlm.nih.gov/pubmed/31737040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.01052
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