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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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Detalles Bibliográficos
Autores principales: Tan, Jianqiang, Chen, Dayu, Chang, Rongni, Pan, Lizhen, Yang, Jinling, Yuan, Dejian, Huang, Lihua, Yan, Tizhen, Ning, Haiping, Wei, Jiangyan, Cai, Ren
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8355895/
https://www.ncbi.nlm.nih.gov/pubmed/34394177
http://dx.doi.org/10.3389/fgene.2021.631688