Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry

• Main Authors: Chengfang Tang (Author), Lixin Li (Author), Ting Chen (Author), Yulin Li (Author), Bo Zhu (Author), Yinhong Zhang (Author), Yifan Yin (Author), Xiulian Liu (Author), Cidan Huang (Author), Jingkun Miao (Author), Baosheng Zhu (Author), Xiaohua Wang (Author), Hui Zou (Author), Lianshu Han (Author), Jizhen Feng (Author), Yonglan Huang (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a multicenter study of 29,601 newborns from eight screening cente...