Skip to main content
SpringerLink
Log in

Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

  • Short Communication
  • 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

  • Baerlocher KE, Feldges A, Weissert M, Simonsz HJ, Rötig A (1992) Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome.J Inher Metab Dis 15: 327–330.

    Google Scholar 

  • Iafolla AK, Gale DS, Roe CR (1990) Citrate therapy in argininosuccinate lyase deficiency.J Pediatr 117: 102–105.

    Google Scholar 

  • Jakobs C, Danse P, Veerman AJP (1991) Organic aciduria in Pearson syndrome.Eur J Pediatr 150: 684.

    Google Scholar 

  • Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS (1992) Significance of bound glutarate in the diagnosis of glutaric aciduria type I.J. Inher Metab Dis 15: 367–370.

    Google Scholar 

  • Rötig A, Cormier V, Blanche S et al (1990) Pearson's marrow-pancreas syndrome: A multisystem mitochondrial disorder in infancy.J Clin Invest 86: 1601–1608.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institut de Bioquímica Clínica, Diputació de Barcelona, Apartat de Correus 137, 08290, Cerdanyola del Vallés, Barcelona

    A. Ribes

  2. Hospital Materno-Infantil, Ciutat Sanitaria Vall d'Hebron, Barcelona

    E. Riudor, A. Salvá, F. Castelló, S. Murillo & C. Dominguez

  3. Hospital Materno-Infantil Juan Canalejo, A. Coruña, Spain

    R. Valcárel

  4. Hopital des Enfants Malades, Paris, France

    A. Rötig

  5. Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands

    C. Jakobs

Authors
  1. A. Ribes
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. Riudor
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. R. Valcárel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. A. Salvá
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. F. Castelló
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. S. Murillo
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. C. Dominguez
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. A. Rötig
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. C. Jakobs
    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

Ribes, A., Riudor, E., Valcárel, R. et al. Pearson syndrome: Altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. J Inherit Metab Dis 16, 537–540 (1993). https://doi.org/10.1007/BF00711675

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711675

Keywords

Search

Navigation