Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Catharina M. L. Touw*, G. Peter A. Smit, Maaike C. de Vries, Johannis B. C. de Klerk, Annet M. Bosch, Gepke Visser, Margot F. Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E. Niezen-Koning, Ronald J. A. Wanders, Hans R. Waterham, Dirk-Jan Reijngoud, Terry G. J. Derks

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume7
Issue number30
DOIs
Publication statusPublished - 25 May 2012

Keywords

  • Population newborn screening
  • Enzyme
  • Genotype
  • Prevalence

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