Journal of Inherited Metabolic Disease

, Volume 17, Issue 3, pp 371–371 | Cite as

Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria

  • İ. Özalp
  • T. Coskun
  • M. Özgüc
  • A. Tokatlı
  • K. Yalaz
  • L. Vanlı
  • E. Yılmaz
  • A. Erbay
Short Report — The PAH Gene

Keywords

Public Health Internal Medicine Phenylketonuria Neurological Evaluation 

References

  1. Okano Y, Eisensmith RC, Güttler F et al (1991) Molecular basis of phenotypic heterogeneity in PKU.N Engl J Med 324: 1232–1238.Google Scholar
  2. Özgüc M, Özalp I, Coskun T et al (1993) Mutation analysis in Turkish phenylketonuria patients.J Med Genet 30: 129–131.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994

Authors and Affiliations

  • İ. Özalp
    • 1
  • T. Coskun
    • 1
  • M. Özgüc
    • 1
  • A. Tokatlı
    • 1
  • K. Yalaz
    • 1
  • L. Vanlı
    • 1
  • E. Yılmaz
    • 1
  • A. Erbay
    • 1
  1. 1.Department of Pediatrics and Medical BiologyHacettepe University, Faculty of MedicineHacettepe/AnkaraTurkey

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