Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China

To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genet...

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Bibliographic Details
Main Authors: Jingying Zhu, Li Han, Pingjingwen Yang, Ziyi Feng, Shuyuan Xue
Format: Article
Language:English
Published: PeerJ Inc. 2024-12-01
Series:PeerJ
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Online Access:https://peerj.com/articles/18173.pdf
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