Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem...
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
About this item
Full title
Author / Creator
Tang, Chengfang , Li, Lixin , Chen, Ting , Li, Yulin , Zhu, Bo , Zhang, Yinhong , Yin, Yifan , Liu, Xiulian , Huang, Cidan , Miao, Jingkun , Zhu, Baosheng , Wang, Xiaohua , Zou, Hui , Han, Lianshu , Feng, Jizhen and Huang, Yonglan
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 centers with NBS via NGS combined with MS/MS. A custom-...
Alternative Titles
Full title
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_4e727847153541dbbe091c3fc95b2816
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4e727847153541dbbe091c3fc95b2816
Other Identifiers
ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns10020028
