A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening

BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IM...

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Dettagli Bibliografici
Pubblicato in:Ann Lab Med
Autori principali: Park, Kyoung-Jin, Park, Seungman, Lee, Eunhee, Park, Jong-Ho, Park, June-Hee, Park, Hyung-Doo, Lee, Soo-Youn, Kim, Jong-Won
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2016
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5011110/
https://ncbi.nlm.nih.gov/pubmed/27578510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2016.36.6.561
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