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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Vydáno v:JIMD Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Research Reports
On-line přístup: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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