Journal of Inherited Metabolic Disease

, Volume 16, Issue 1, pp 63–66

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening

  • C. Jakobs
  • C. M. M. van den Heuvel
  • F. Stellaard
  • C. Largillière
  • F. Skovby
  • E. Christensen
Article

DOI: 10.1007/BF00711316

Cite this article as:
Jakobs, C., van den Heuvel, C.M.M., Stellaard, F. et al. J Inherit Metab Dis (1993) 16: 63. doi:10.1007/BF00711316

Summary

Zellweger syndrome was diagnosedpost mortem by determining the very long-chain fatty acids in a blood spot collected at neonatal screening.

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993

Authors and Affiliations

  • C. Jakobs
    • 1
  • C. M. M. van den Heuvel
    • 1
  • F. Stellaard
    • 1
  • C. Largillière
    • 2
  • F. Skovby
    • 3
  • E. Christensen
    • 3
  1. 1.Department of PediatricsFree University HospitalAmsterdamThe Netherlands
  2. 2.Service de Pédiatrie et Génétique MédicalesHôpital HuviezLilleFrance
  3. 3.Department of Clinical Genetics, RigshospitaletUniversity of CopenhagenDenmark