Journal of Inherited Metabolic Disease

, Volume 17, Issue 6, pp 748–748 | Cite as

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

  • M. O. Rolland
  • G. Mandon
  • A. Bernard
  • M. T. Zabot
  • M. Mathieu
Short Report

Keywords

Public Health Internal Medicine Prenatal Diagnosis Skin Fibroblast Fetal Skin 

References

  1. Bennett MJ, Gibson KM, Scherwood WG et al (1993) Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.J Inher Metab Dis 16: 831–836.Google Scholar
  2. Hagenfeldt L, Bollgren I, Venizelos N (1987)N-Acetylaspartic aciduria due to aspartoacylase deficiency. A new aetiology of childhood leukodystrophy.J Inher Metab Dis 10: 135–141.Google Scholar
  3. Matalon R, Kaul R, Michals K (1993) Canavan disease: biochemical and molecular studies.J Inher Metab Dis 16: 744–752.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994

Authors and Affiliations

  • M. O. Rolland
    • 1
  • G. Mandon
    • 1
  • A. Bernard
    • 1
  • M. T. Zabot
    • 1
  • M. Mathieu
    • 1
  1. 1.Centre d'Etude des Maladies MétaboliquesHôpital DebrousseLyonFrance

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