A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Emmalie A. Jager, Myrthe M. Kuijpers, Annet M. Bosch, Margot F. Mulder, Estela R. Gozalbo, Gepke Visser, Maaike de Vries, Monique Williams, Hans R. Waterham, Francjan J. van Spronsen, Peter C. J. I. Schielen, Terry G. J. Derks*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)890-897
Number of pages8
JournalJournal of Inherited Metabolic Disease
Volume42
Issue number5
DOIs
Publication statusPublished - Sep 2019

Keywords

  • acylcarnitine
  • inborn errors of metabolism
  • medium-chain acyl-CoA dehydrogenase deficiency
  • neonatal screening
  • prevalence
  • INBORN-ERRORS
  • BLOOD SPOTS
  • DIAGNOSIS
  • OCTANOYLCARNITINE
  • PERFORMANCE
  • PREVALENCE
  • METABOLISM
  • DISORDERS
  • CHILDREN
  • COENZYME

Cite this

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I., & Derks, T. G. J. (2019). A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands. Journal of Inherited Metabolic Disease, 42(5), 890-897. https://doi.org/10.1002/jimd.12102