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

• Автори: Chengfang Tang (Автор), Lixin Li (Автор), Ting Chen (Автор), Yulin Li (Автор), Bo Zhu (Автор), Yinhong Zhang (Автор), Yifan Yin (Автор), Xiulian Liu (Автор), Cidan Huang (Автор), Jingkun Miao (Автор), Baosheng Zhu (Автор), Xiaohua Wang (Автор), Hui Zou (Автор), Lianshu Han (Автор), Jizhen Feng (Автор), Yonglan Huang (Автор)
• Формат: Книга
• Опубліковано: MDPI AG, 2024-03-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...