Skip to main content
SpringerLink
Log in

Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

  • 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, Sherwood WG, Gibson KM, Burlina AB (1993) Secondary inhibition of multiple NAD-requiring dehydrogenase in respiratory chain complex I deficiency: possible metabolic markers for the primary defect. J Inher Metab Dis 16: 560-562.

    Google Scholar 

  • Gibson KM, Feigenbaum ASJ (1997) Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto) thiolase deficiency. J Inher Metab Dis 20: 712-713.

    Google Scholar 

  • Riudor E, Ribes A, Perez-Cerda C et al (1995) Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. J Inher Metab Dis 18: 748-749.

    Google Scholar 

  • Sweetman L, Williams JC (1995) Branched chain organic acidurias. In Scriver CR, Beaudet A, Sly WS, Valle DV, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw Hill, 1387-1422.

    Google Scholar 

Download references

Authors
  1. A. B. Burlina
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. K. M. Gibson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. W. Ruitenbeek
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. L. Bonafè
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. J. Bennett
    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

Burlina, A.B., Gibson, K.M., Ruitenbeek, W. et al. Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism. J Inherit Metab Dis 21, 864–866 (1998). https://doi.org/10.1023/A:1005426920116

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005426920116

Keywords

Search

Navigation