Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

H.A. Haijes, F. Molema, M. Langeveld, M.C. Janssen, A.M. Bosch, F. van Spronsen, M.F. Mulder, N.M. Verhoeven-Duif, J.J.M. Jans, A.T. van der Ploeg, M.A. Wagenmakers, M.E. Rubio-Gozalbo, M.C.G.J. Brouwers, M.C. de Vries, J.G. Langendonk, M. Williams, P.M. van Hasselt

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)424-437
Number of pages14
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number3
DOIs
Publication statusPublished - 1 May 2020

Keywords

  • age
  • methylmalonic acidemia
  • mma
  • nbs
  • newborn screening
  • onset
  • organic acidurias
  • pa
  • phenotypic spectrum
  • propionic acidemia
  • MMA
  • PHENOTYPIC SPECTRUM
  • PA
  • ORGANIC ACIDURIAS
  • NBS
  • ONSET
  • AGE

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