A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns

BACKGROUND: Newborn screening (NBS) in China is mainly aimed at detecting biochemical levels of metabolites in the blood, which may generate false-positive/negative results. Current biochemical NBS includes tandem mass spectrometry (MS/MS) screening for metabolites as well as phenylalanine (Phe), th...

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Detalles Bibliográficos
Autores principales: Luo, Xiaomei, Sun, Yu, Xu, Feng, Guo, Jun, Li, Lin, Lin, Zhiwei, Ye, Jun, Gu, Xuefan, Yu, Yongguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575988/
https://www.ncbi.nlm.nih.gov/pubmed/33145277
http://dx.doi.org/10.21037/atm-20-1147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575988/
https://www.ncbi.nlm.nih.gov/pubmed/33145277
http://dx.doi.org/10.21037/atm-20-1147

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