Skip to main content
SpringerLink
Log in

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: A report of 16 cases

  • 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

  • Arai N, Narisawa K, Hayakawa H, Tada K (1982) Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.Pediatrics 70: 426–430.

    Google Scholar 

  • Blau N (1988) Inborn errors of pterin metabolism.Ann Rev Nutr 8: 185–209.

    Google Scholar 

  • Coskun T, Besim A, Özalp I, Eryilmaz M (1990) Intracranial calcification in dihydropteridine reductase deficiency.Turk J Pediatr 32: 259–264.

    Google Scholar 

  • Dhondt JL (1991)Register of Tetrahydrobiopterin Deficiencies. Milupa, Bagnolet.

    Google Scholar 

  • Niederwieser A, Staudenmann W, Wetzel E (1982) Automatic HPLC with or without column switching. In Wachter H, Curtius HCh, Pfleiderer W, eds.Biochemical and Clinical Aspects of Pteridines, vol. 1. New York: De Gruyter, 81–102.

    Google Scholar 

  • Niederwieser A, Staudenmann W, Wetzel E (1984) High performance liquid chromatography with column switching for the analysis of biogenic amine metabolites and pterins.J Chromatogr 290: 237–246.

    Google Scholar 

  • Shintaku H, Niederwieser A, Leimbacher W, Curtius HCh (1988) Tetrahydrobiopterin deficiency: assay for 6-tetrahydropterin synthase activity in erythrocytes and detection of patients and heterozygous carriers.Eur J Pediatr 147: 15–19.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, Hacettepe University, Faculty of Medicine, 06100, Hacettepe/Ankara, Turkey

    T. Coskun, I. özalp & A. Tokatli

  2. Division of Clinical Chemistry, Department of Pediatrics, University of Zürich, CH-8032, Zürich, Switzerland

    N. Blau & A. Niederwieser

Authors
  1. T. Coskun
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I. özalp
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Tokatli
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. N. Blau
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. A. Niederwieser
    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

Coskun, T., özalp, I., Tokatli, A. et al. Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: A report of 16 cases. J Inherit Metab Dis 16, 605–607 (1993). https://doi.org/10.1007/BF00711694

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00711694

Keywords

Search

Navigation