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Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations

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References

  1. Erlandsen H, Stevens RC (2001) A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphylalaninaemia and phenylketonuria. J Inherit Metab Dis 24: 213–230

    Article  CAS  PubMed  Google Scholar 

  2. Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, Ullrich K, Hoffmann G, Burgard P, Schmidt H, Meli C, Riva E, Dianzani I, Ponzone A, Rey J, Güttler F (1998) A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 63: 71–79

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR (1997) Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet 61: 1309–1317

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  4. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, Sakamoto O, Fujii K, Matsubara Y, Narisawa K (1999) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr 135: 375–378

    Article  CAS  PubMed  Google Scholar 

  5. Lindner M, Haas D, Zschocke J, Burgard P (2001) Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab 73: 104–106

    Article  CAS  PubMed  Google Scholar 

  6. Spaapen LJM, Bakker JA, Velter C, Loots W, Rubio-Gonzalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M (2001) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates. J Inherit Metab Dis 24: 352–358

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, University of Hamburg, Martinistrasse 52, 20246, Hamburg, Germany

    Robert Steinfeld, Alfried Kohlschütter, Kurt Ullrich & Zoltan Lukacs

  2. Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

    Johannes Zschocke

  3. Department of Pediatrics, University of Heidelberg, Heidelberg, Germany

    Johannes Zschocke & Martin Lindner

Authors
  1. Robert Steinfeld
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  2. Alfried Kohlschütter
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  3. Johannes Zschocke
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  4. Martin Lindner
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  5. Kurt Ullrich
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  6. Zoltan Lukacs
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Correspondence to Zoltan Lukacs.

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Steinfeld, R., Kohlschütter, A., Zschocke, J. et al. Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations. Eur J Pediatr 161, 403–405 (2002). https://doi.org/10.1007/s00431-002-0966-0

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  • DOI: https://doi.org/10.1007/s00431-002-0966-0

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