The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Objective: To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD). Patients and Methods: Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ≥0....

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發表在:JIMD Rep
Main Authors: Diekman, Eugene, de Sain-van der Velden, Monique, Waterham, Hans, Kluijtmans, Leo, Schielen, Peter, van Veen, Evert Ben, Ferdinandusse, Sacha, Wijburg, Frits, Visser, Gepke
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2015
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864775/
https://ncbi.nlm.nih.gov/pubmed/26453363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_476
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