Ontology highlight
ABSTRACT:
SUBMITTER: Stroek K
PROVIDER: S-EPMC7358668 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Stroek Kevin K Boelen Anita A Bouva Marelle J MJ De Sain-van der Velden Monique M Schielen Peter C J I PCJI Maase Rose R Engel Henk H Jakobs Bernadette B Kluijtmans Leo A J LAJ Mulder Margot F MF Rubio-Gozalbo M E ME van Spronsen Francjan J FJ Visser Gepke G de Vries Maaike C MC Williams Monique M Heijboer Annemieke C AC Kemper Evelien A EA Bosch Annet M AM
JIMD reports 20200513 1
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 μmol/L blood) and have explored possibilities for improvement by combining our data with a systematic literature review and data from Collaborative Laboratory Integrated Reports (CLIR). Dutch MSUD NBS c ...[more]