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Prenatal Diagnosis of Atypical Phenylketonuria

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Journal of Inherited Metabolic Disease

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References

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

    PubMed  CAS  Google Scholar 

  • Blau, N., Niederwieser, A., Curtius, H. Ch., Leimbacher, W., Kierat, L., Matasovic, A., Staudenmann, W. and Özalp, I., Prenatal diagnosis of tetrahydrobiopterin deficiency. In Curtius, H. Ch., Blau, N. and Levine, R. (eds.) Unconjugated Pterins and Related Biogenic Amines, Walter de Gruyter, Berlin, 1987, pp. 237–246

    Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Curtius, H. Ch., Kuster, Th., Matasovic, A., Blau, N. and Dhondt, J. L. Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins in a patient with hyperphenylalaninemia. Biochem. Biophys. Res. Commun. 153 (1988) 715–721

    Article  PubMed  CAS  Google Scholar 

  • Niederwieser, A., Shintaku, H., Hasler, Th., Curtius, H. Ch., Lehmann, H., Guardamagna, O. and Schmidt, H. Prenatal diagnosis of ‘dihyrobiopterin synthetase’ deficiency, a variant form of phenylketonuria. Eur. J. Pediatr. 145 (1986) 176–178

    Article  PubMed  CAS  Google Scholar 

  • Niederwieser, A. and Curtius, H. Ch. Tetrahydrobiopterin biosynthetic pathwav and deficiency. Enzyme 38 (1987) 302–311

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Clinical Chemistry, Department of Pediatrics, University of Zurich, Zurich, Switzerland

    N. Blau, A. Niederwieser, H. Ch. Curtius, L. Kierat, W. Leimbacher & A. Matasovic

  2. Institute of Genetics, University of Zurich, Zurich, Switzerland

    F. Binkert

  3. Department of Pediatrics, University of Ulm, FRG

    H. Lehmann & D. Leupold

  4. Department of Pediatrics, University of Torino, Italy

    O. Guardamagna & A. Ponzone

  5. Department of Pediatrics, University of Heidelberg, FRG

    H. Schmidt

  6. Institute of Child Health, Department of Pediatrics, Nutrition and Metabolism, Hacettepe University, Ankara, Turkey

    T. Coskun & I. Özalp

  7. Department of Medical Genetics, Hospital of Porto Alegre, Brazil

    R. Giugliani

  8. Department of Pediatrics, University of Milano, Italy

    G. Biasucci & M. Giovannini

Authors
  1. N. Blau
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  2. A. Niederwieser
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  3. H. Ch. Curtius
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  4. L. Kierat
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  5. W. Leimbacher
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  6. A. Matasovic
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  7. F. Binkert
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  8. H. Lehmann
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  9. D. Leupold
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  10. O. Guardamagna
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  11. A. Ponzone
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  12. H. Schmidt
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  13. T. Coskun
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  14. I. Özalp
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  15. R. Giugliani
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  16. G. Biasucci
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  17. M. Giovannini
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Blau, N., Niederwieser, A., Curtius, H.C. et al. Prenatal Diagnosis of Atypical Phenylketonuria. J Inherit Metab Dis 12 (Suppl 2), 295–298 (1989). https://doi.org/10.1007/BF03335403

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  • DOI: https://doi.org/10.1007/BF03335403

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