Skip to main content
SpringerLink
Log in

A new case of holocarboxylase synthetase deficiency

  • 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

  • Bartlett, K., Ghneim, H. K., Stirk, H.-J. and Wastell, H. Enzyme studies in biotin-responsive disorders.J. Inher. Metab. Dis. 8 Suppl. 1 (1985) 45–52

    Google Scholar 

  • Burri, B. J., Sweetman, L. and Nyhan, W. L. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.Am. J. Hum. Genet. 37 (1985) 326–337

    Google Scholar 

  • Sherwood, W. G., Saunders, M., Robinson, B. H., Brewster, T. and Gravel, R. A. Lactic acidosis in biotin responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.J. Pediatr. 101 (1982) 546–550

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Diputación de Barcelona, Instituto de Bioquímica Clínica, Apartat de Correus 137, 08290, Cerdanyola (Barcelona), Spain

    P. Briones, A. Ribes & M. A. Vilaseca

  2. Centro Materno Infantil, Ciudad Sanitaria ‘Juan Canalejo’, La Coruña, Spain

    G. Rodríguez-Valcárcel

  3. University of California, San Diego, La Jolla, California, USA

    L. P. Thuy & L. Sweetman

Authors
  1. P. Briones
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. Ribes
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. A. Vilaseca
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. G. Rodríguez-Valcárcel
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L. P. Thuy
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. L. Sweetman
    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

Briones, P., Ribes, A., Vilaseca, M.A. et al. A new case of holocarboxylase synthetase deficiency. J Inherit Metab Dis 12, 329–330 (1989). https://doi.org/10.1007/BF01799228

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01799228

Keywords

Search

Navigation