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A retrospective analysis of MS/MS screening for IEM in high-risk areas

Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening f...

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Detalles Bibliográficos
Autores principales: He, Xiao, Kuang, Juan, Lai, Jiahong, Huang, Jingxiong, Wang, Yijin, Lan, Guofeng, Xie, Yingjun, Shi, Xuekai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10021976/
https://www.ncbi.nlm.nih.gov/pubmed/36927542
http://dx.doi.org/10.1186/s12920-023-01483-1