A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this...

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Pubblicato in:Yonsei Med J
Autori principali: Ko, Jung Min, Park, Kyung Sun, Kang, Yeeok, Nam, Seong-Hyeuk, Kim, Yoonjung, Park, Inho, Chae, Hyun Wook, Lee, Soon Min, Lee, Kyung-A, Kim, Jong-Won
Natura: Artigo
Lingua:Inglês
Pubblicazione: Yonsei University College of Medicine 2018
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5990675/
https://ncbi.nlm.nih.gov/pubmed/29869463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3349/ymj.2018.59.5.652
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