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Phenotyping of phenylketonuric patients by oral phenylalanine loading

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Abbreviations

Phe :

phenylalanine

PKU :

phenylketonuria

References

  1. Guldberg P, Mikkelsen I, Henriksen KF, Lou HC, Guttler F (1995) In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. Eur J Pediatr 154: 551–556

    Article  PubMed  Google Scholar 

  2. Ponzone A, Guardamagna O, Spada M, Ferraris S, Ponzone R, Kierat L, Blau N (1993) Differential diagnosis of hyperphenylalaninemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 152: 655–661

    PubMed  Google Scholar 

References

  1. Guldberg P, Mikkelsen I, Henriksen KF, Lou HC, Güttler F (1995) In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations. Eur J Pediatr 154: 551–556

    Article  PubMed  Google Scholar 

  2. Güttler F, Olesen ES, Wamberg E (1969) Diurnal variations of serum phenylalanine in phenylketonuric children on low phenylalanine diet. Am J Clin Nutr 22: 1568–1570

    PubMed  Google Scholar 

  3. Güttler F (1971) Persistent hyperphenylalaminemia. Scand J Clin Lab Invest [Suppl] 118: 48

    Google Scholar 

  4. Güttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency. Acta Paediatr Scand [Suppl] 280: 1–80

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, University of Torino, Regina Margherita Children's Hospital, Piazza Polonia, 94, I-10126, Torino, Italy

    A. Ponzone, M. Spada, L. de Sanctis & I. Dianzani

  2. The John F. Kennedy Institute, 7, Gl. Landevej, DK-2600, Glostrup, Denmark

    P. Guldberg & F. Güttler

Authors
  1. A. Ponzone
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  2. M. Spada
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  3. L. de Sanctis
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  4. I. Dianzani
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  5. P. Guldberg
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  6. F. Güttler
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Ponzone, A., Spada, M., de Sanctis, L. et al. Phenotyping of phenylketonuric patients by oral phenylalanine loading. Eur J Pediatr 155, 523–525 (1996). https://doi.org/10.1007/BF01955198

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  • DOI: https://doi.org/10.1007/BF01955198

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