Skip to main content
SpringerLink
Log in

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

  • 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

  • Huizing M, Iacobazzi V, Ijlst L, et al (1997) Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61:1239–1245.

    Google Scholar 

  • Huizing M, Wendel U, Ruitenbeek W, et al (1998) Carnitine acylcarnitine carrier deficiency: identification of the molecular defect in a patient. J Inher Metab Dis 21: 262–267.

    Google Scholar 

  • Indiveri C, Iacobazzi V, Giangregorio N, et al (1997) The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. Biochem J 321: 713–719.

    Google Scholar 

  • Viggiano L, Iacobazzi V, Marzella R, Cassano C, Rocchi M, Palmieri F (1997) Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet 79(1–2): 62–63.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. AP-HP Hospital Bicêtre Laboratory of Biochemistry, Le Kremlin Bicetre, Paris, France

    C. Costa, A. Slama, A. Boutron, A. Legrand & M. Brivet

  2. Laboratory of Prenatal Diagnosis, Neuilly, American Hospital of Paris, Paris, France

    J. M. Costa

  3. Department of Clinical Genetics, AP-HP Hospital Necker, Paris, France

    J. M. Nuoffer & J. M. Saudubray

Authors
  1. C. Costa
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. M. Costa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. M. Nuoffer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Slama
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Boutron
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. J. M. Saudubray
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. A. Legrand
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. M. Brivet
    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

Costa, C., Costa, J.M., Nuoffer, J.M. et al. Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. J Inherit Metab Dis 22, 267–270 (1999). https://doi.org/10.1023/A:1005590223680

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005590223680

Keywords

Search

Navigation