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

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

Abstract 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 sc...

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Bibliographic Details
Main Authors: Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie, Xuekai Shi
Format: Article
Language:English
Published: BMC 2023-03-01
Series:BMC Medical Genomics
Subjects:
Inborn errors of metabolism
Newborn screening
Tandem mass spectrometry
Genetic testing
Sequencing
Online Access:https://doi.org/10.1186/s12920-023-01483-1

Internet

https://doi.org/10.1186/s12920-023-01483-1

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