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

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

Cite this

Touw, C. M. L., Smit, G. P. A., de Vries, M. C., de Klerk, J. B. C., Bosch, A. M., Visser, G., Mulder, M. F., Rubio-Gozalbo, M. E., Elvers, B., Niezen-Koning, K. E., Wanders, R. J. A., Waterham, H. R., Reijngoud, D-J., & Derks, T. G. J. (2012). Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet Journal of Rare Diseases, 7(30). https://doi.org/10.1186/1750-1172-7-30