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Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency

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References

  1. Blau N, Thöny B, Heizmann CW, Dhondt JL (1993) Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4:1–10

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  2. Burlina AB, Bordugo A, Dariol R, Zacchello F, Blau N (1993) Normal Guthrie test in a patient with GTP cyclohydrolase I deficiency: treatment by combined use of tetrahydrobiopterin (BH4) and neurotransmitter precursors (abstract) 31st SSIEM Annual Symposium Manchester, p 008

  3. 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

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Author notes

  1. A. Ponzone

    Present address: Department of Paediatrics, University of Torino, Piazza G.C. Dogliotti 94, I-10126, Torino, Italy

Authors and Affiliations

  1. Department of Paediatrics, University of Torino, Piazza G.C. Dogliotti 94, I-10126, Torino, Italy

    S. Ferraris & M. Spada

  2. Division of Clinical Chemistry, University Children's Hospital, Steinwiessstrasse 75, CH-8032, Zürich, Switzerland

    N. Blau

  3. Department of Paediatrics, University of Padova, Via Giustiniani 3, I-35128, Padova, Italy

    S. Piovan & A. B. Burlina

Authors
  1. A. Ponzone
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  2. S. Ferraris
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  3. M. Spada
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  4. N. Blau
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  5. S. Piovan
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  6. A. B. Burlina
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Ponzone, A., Ferraris, S., Spada, M. et al. Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency. Eur J Pediatr 153, 616 (1994). https://doi.org/10.1007/BF02190677

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  • DOI: https://doi.org/10.1007/BF02190677

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