Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

IMPORTANCE: Recent advances in newborn screening (NBS) have improved the diagnosis of inborn errors of metabolism (IEMs); however, many potentially treatable IEMs are not included on NBS panels, nor are they covered in standard, first-line biochemical testing. OBJECTIVE: To examine the utility of un...

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Detalhes bibliográficos
Publicado no:JAMA Netw Open
Main Authors: Liu, Ning, Xiao, Jing, Gijavanekar, Charul, Pappan, Kirk L., Glinton, Kevin E., Shayota, Brian J., Kennedy, Adam D., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8276086/
https://ncbi.nlm.nih.gov/pubmed/34251446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2021.14155
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