European Journal of Pediatrics

, Volume 152, Issue 8, pp 662–664 | Cite as

Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties

  • L. K. Hansen
  • K. Wulff
  • C. Dorche
  • E. Christensen
Metabolic Diseases

Abstract

Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.

Key words

Molybdenum cofactor deficiency Sulphite oxidase deficiency 

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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • L. K. Hansen
    • 1
  • K. Wulff
    • 1
  • C. Dorche
    • 2
  • E. Christensen
    • 3
  1. 1.Department of PaediatricsOdense University HospitalOdenseDenmark
  2. 2.Service de BiochimieHopital DebrousseLyon Cedex 05France
  3. 3.Section of Clinical Genetics, Department of PaediatricsRigshospitaletCopenhangenDenmark

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