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

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

Abstract 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 va...

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Bibliographic Details
Main Authors: Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:JIMD Reports
Subjects:
dried blood spots
leucine
maple syrup urine disease
mass‐spectrometry
newborn screening
positive predictive value
Online Access:https://doi.org/10.1002/jmd2.12124

Internet

https://doi.org/10.1002/jmd2.12124

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