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Malignant hyperphenylalaninaemia—Current status (June 1977)

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Journal of Inherited Metabolic Disease

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References

  • Bartholomé, K., Byrd, D. J. and Kaufman, S. (1977). Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activityin vitro.Pediatrics,59, 757

    PubMed  Google Scholar 

  • Brewster, T. G., Abroms, I. F., Kaufman, S., Breslow, J. L., Moskowitz, K. A., Villee, D. B. and Snodgrass, R. S. (1976). Atypical PKU, seizures and developmental delay with dihydropteridine reductase deficiency.Pediatr. Res. 10, 446

    Google Scholar 

  • Danks, D. M., Cotton, R. G. H. and Schlesinger, P. (1975). Tetrahydrobiopterin treatment of variant form of phenylketonuria.Lancet,ii, 1043

    Google Scholar 

  • Danks, D. M., Cotton, R. G. H. and Schlesinger, P. (1976). Variant forms of phenylketonuria.Lancet,i, 1236

    Google Scholar 

  • Kaufman, S., Holtzman, N. A., Milstein, S., Butler, I. J. and Krumholz, A. (1975). Phenylketonuria due to a deficiency of dihydropteridine reductase.N. Engl. J. Med.,293, 785

    PubMed  Google Scholar 

  • Leeming, R. J., Blair, J. A., Green, A. and Raine, D. N. (1976). Biopterin derivatives in normal and phenylketonuria patients after oral doses of L-phenylalanine, L-tyrosine and L-tryptophan.Arch. Dis. Child.,51, 771

    PubMed  Google Scholar 

  • Milstein, S., Holtzman, N. A., O'Flynn, M. E., Thomas, G. H., Butler, I. J. and Kaufman, S. (1976). Hyperphenyl-alaninemia due to dihydropteridine reductase deficiency.J. Paediatr.,89, 763

    Google Scholar 

  • Milstein, S., Orloff, S., Spielberg, S., Berlow, S., Schulman, J.D. and Kaufman, S. (1977). Hyperphenylalaninemia due to phenylalanine hydroxylase cofactor deficiency.Pediatr. Res.,11, 460

    Google Scholar 

  • Rembold, H. (1978). Metabolism and metabolic roles of 6-polyhydroxyalkyl pterins.J. Inher. Metab. Dis.,1, 61

    PubMed  Google Scholar 

  • Rey, F., Harpey, J. P., Leeming, R. J., Aicardi, J. and Rey, J. (1977). Les hyperphenylalaninémies avec activité normale de la phenylalanine-hydroxylase.Arch. Franç. Péd.,34, Supplement 2, 109

    Google Scholar 

  • Smith, I., Clayton, B. E. and Wolff, O. H. (1975). New variant of phenylketonuria with progressive neurological illness unresponsive to phenylalanine restriction.Lancet,i, 1108

    Google Scholar 

  • Watson, B. M., Schlesinger, P. and Cotton, R. G. H. (1977). Dihydroxanthopterinuria in phenylketonuria and lethal hyperphenylalaninemia patients.Clin. Chim. Acta,78, 417

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Royal Children's Hospital, Parkville, 3052, Melbourne, Australia

    D. M. Danks

  2. Kinderklinik der Universität, Hofmeisterweg 1-9, 6900, Heidelberg 1, West Germany

    K. Bartholomé

  3. Department of Chemical Pathology, Hospital for Sick Children, Great Ormond Street, London

    B. E. Clayton

  4. Biochemistry Department, Kinderspital, Zurich, Switzerland

    H. Curtius

  5. Children's Hospital, University of Münster, Munster, West Germany

    H. Gröbe

  6. Laboratory of Neurochemistry, National Institute of Mental Health, 20014, Bethesda, Maryland, USA

    S. Kaufman

  7. Microbiology Department, The General Hospital, Steelhouse Lane, Birmingham, UK

    R. Leeming

  8. Fachbereich Chemie, Universität Konstanz, Constance, West Germany

    W. Pfleiderer

  9. Max-Planck Institut für Biochemie, Martinsried bei München, Munich, West Germany

    H. Rembold

  10. Hopital des Enfants Malades, 147 Rue de Sevres, Paris, France

    F. Rey

Authors
  1. D. M. Danks
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  2. K. Bartholomé
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  3. B. E. Clayton
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  4. H. Curtius
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  5. H. Gröbe
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  6. S. Kaufman
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  7. R. Leeming
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  8. W. Pfleiderer
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  9. H. Rembold
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  10. F. Rey
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Danks, D.M., Bartholomé, K., Clayton, B.E. et al. Malignant hyperphenylalaninaemia—Current status (June 1977). J Inherit Metab Dis 1, 49–53 (1978). https://doi.org/10.1007/BF01801843

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  • DOI: https://doi.org/10.1007/BF01801843

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