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Journal of Inherited Metabolic Disease

, Volume 14, Issue 5, pp 845–846 | Cite as

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

  • K. H. Schulpis
  • A. Covanis
  • M. Loumakou
  • N. Frantzis
  • O. Papandreou
  • A. Divolli
  • S. Missiou-Tsagaraki
  • L Kierat
  • N. Blau
Case Report

Keywords

Neopterin Pterin Fanconi Syndrome Biopterin Dihydropteridin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Blau, N. Inborn errors of pterin metabolism.Ann. Rev. Nutr. 8 (1988) 185–209CrossRefGoogle Scholar
  2. Missiou-Tsagaraki, S., Schulpi, K. and Loumakou, M. Phenylketonuria in Greece. 12 years' experience.J. Ment. Def. Res. 32 (1988) 271–288Google Scholar
  3. Ponzone, A., Blau, N., Gaudamagna, O., Ferrero, G.B., Dianzani, I. and Endres, W. Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype.J. Inher. Metab. Dis. 13 (1990) 298–300PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1991

Authors and Affiliations

  • K. H. Schulpis
    • 1
  • A. Covanis
    • 2
  • M. Loumakou
    • 1
  • N. Frantzis
    • 1
  • O. Papandreou
    • 2
  • A. Divolli
    • 1
  • S. Missiou-Tsagaraki
    • 1
  • L Kierat
    • 3
  • N. Blau
    • 3
  1. 1.Institute of Child HealthAghia Sophia Children's HospitalAthensGreece
  2. 2.Department of NeurologyAghia Sophia Children's HospitalAthensGreece
  3. 3.Division of Clinical Chemistry, Department of PediatricsUniversity of ZurichZurichSwitzerland

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