Skip to main content
SpringerLink
Log in

Prenatal diagnosis of Canavan disease — Problems and dilemmas

  • Published:
Journal of Inherited Metabolic Disease

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

REFERENCES

  • Bennett MJ, Gibson KM, Sherwood WG, et al (1993) Reliable prenatal diagnosis of Canavan disease (aspartocylase deficiency): comparison of enzymatic and metabolite analysis. J Inher Metab Dis 16: 831–836.

    Google Scholar 

  • During MJ (1996) Gene trail in New Zealand. Lancet 348: 618.

    Google Scholar 

  • Elpeleg ON, Shaag A, Anikster Y, Jakobs C (1994) Prenatal diagnosis of Canavan disease (aspartoacylase deficiency) by DNA analysis. J Inher Metab Dis 17: 664–666.

    Google Scholar 

  • Jakobs C, ten Brink HJ, Langelaar SA, et al (1991) Stable isotope dilution analysis of Nacetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. J Inher Metab Dis 14: 653–660.

    Google Scholar 

  • Kelley RI (1993) Prenatal diagnosis of Canavan disease by measurement of N-acetylaspartate in amniotic fluid. J Inher Metab Dis 16: 918–919.

    Google Scholar 

  • Matalon R, Michals K, Kaul R (1995) Canavan disease: from spongy degeneration to molecular analysis J Pediatr 127: 511–517.

    Google Scholar 

  • Rolland MO, Mandon G, Bernard A, Zabot MT, Mathieu M (1994) Unreliable verification of prenatal diagnosis of Canavan disease: aspartocylase activity in deficient and normal fetal skin fibroblasts J Inher Metab Dis 17: 748.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester, UK

    G. T. N. Besley & J. H. Walter

  2. Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel

    O. N. Elpeleg & A. Shaag

  3. Neonatal Screening Laboratory, Sheffield Children's Hospital, Sheffield, UK

    N. J. Manning

  4. Metabolic Unit, Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands

    C. Jakobs

Authors
  1. G. T. N. Besley
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. O. N. Elpeleg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Shaag
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. N. J. Manning
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. Jakobs
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. J. H. Walter
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Besley, G.T.N., Elpeleg, O.N., Shaag, A. et al. Prenatal diagnosis of Canavan disease — Problems and dilemmas. J Inherit Metab Dis 22, 263–266 (1999). https://doi.org/10.1023/A:1005534105933

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005534105933

Keywords

Search

Navigation