Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Jeannette C. Bleeker, Irene L. Kok, Sacha Ferdinandusse, W. Ludo van der Pol, Inge Cuppen, Annet M. Bosch, Mirjam Langeveld, Terry G. J. Derks, Monique Williams, Maaike de Vries, Margot F. Mulder, Estela R. Gozalbo, Monique G. M. de Sain-van der Velden, Alexander J. Rennings, Peter J. C. I. Schielen, Eugenie Dekkers, Riekelt H. Houtkooper, Hans R. Waterham, Mia L. Pras-Raves, Ronald J. A. WandersPeter M. van Hasselt, Marja Schoenmakers, Frits A. Wijburg, Gepke Visser

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)414-423
Number of pages10
JournalJournal of Inherited Metabolic Disease
Volume42
Issue number3
DOIs
Publication statusPublished - May 2019

Keywords

  • cardiomyopathy
  • fatty acid oxidation
  • hypoglycemia
  • myopathy
  • newborn screening
  • very-long-chain acyl-CoA dehydrogenase deficiency
  • ACID BETA-OXIDATION
  • BIOLOGICAL FEATURES
  • FOLLOW-UP
  • DEFECTS
  • DISORDERS
  • MUTATIONS
  • DIAGNOSIS
  • PHENOTYPE
  • SYMPTOMS
  • GENOTYPE

Cite this

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., ... Visser, G. (2019). Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes. Journal of Inherited Metabolic Disease, 42(3), 414-423. https://doi.org/10.1002/jimd.12075