Skip to main content
SpringerLink
Log in

N-Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy

  • Case Report
  • 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

  • Divry, P., Vianey-Liaud, C., Mory, O. and Ravussin, J. J. 3-Methylglutaconic aciduria: familial neonatal form with fatal onset.J. Inher. Metab. Dis. 10 Suppl. 2 (1987) 286–289

    Google Scholar 

  • Hagenfeldt, L., Bollgren, I. and Venizelos, N.N-Acetylaspartic aciduria due to aspartoacylase deficiency. A new aetiology of childhood leukodystrophy.J. Inher. Metab. Dis. 10 (1987) 135–141

    Google Scholar 

  • Kvittingen, E. A., Guldal, G., Borsting, S., Skalpe, I. O., Stokke, O. and Jellum, E.N-Acetylaspartic aciduria in a child with progressive cerebral atrophy.Clin. Chim. Acta 158 (1986) 217–227

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Laboratoire de Biochimie, Hôpital Debrousse, 69322, Lyon Cédex 05, France

    P. Divry & C. Vianey-Liaud

  2. Service de Pédiatrie, CHG Vienne, 38209, Vienne Cédex, France

    C. Gay & V. Macabeo

  3. Service de Neuropédiatrie, Centre Gui de Chauliac, 34059, Montpellier Cédex, France

    F. Rapin & B. Echenne

Authors
  1. P. Divry
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Vianey-Liaud
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. C. Gay
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. V. Macabeo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. F. Rapin
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. B. Echenne
    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

Divry, P., Vianey-Liaud, C., Gay, C. et al. N-Acetylaspartic aciduria: report of three new cases in children with a neurological syndrome associating macrocephaly and leukodystrophy. J Inherit Metab Dis 11, 307–308 (1988). https://doi.org/10.1007/BF01800378

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01800378

Keywords

Search

Navigation