Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hours, referral if both total leucine (Xle) and valine ≥400...

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Udgivet i:JIMD Rep
Main Authors: Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
Fag:
Research Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358668/
https://ncbi.nlm.nih.gov/pubmed/32685353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12124
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