References
Bernegger C, Blau N (2002) High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002. Mol Genet Metab 77: 304–313
Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101–111
Fiege B, Ballhausen D, Kierat L, Leimbacher W, Goriouniv D, Schircks B, Thöny B, Blau N (2004) Plasma tetrahydrobiopterin and its pharmacokinetics following oral administration. Mol Genet Metab 81: 45–51
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
Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA (2002) Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med 347: 2122–2132
Thöny B, Ding Z, Martinez A (2004) Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia. FEBS Lett 577: 507–511
Acknowledgements
The authors thank the patient and his family for their exemplary participation. This work was supported by the Swiss National Science Foundation grant no. 3100-066953.01. Thomas Opladen received a research grant from the Aachen Medical Faculty and support from the “Sanitätsrat-Dr.-Emil-Alexander-Huebner-und Gemahlin-Stiftung”.
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The first two authors contributed equally to this work.
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Opladen, T., Zurflüh, M., Kern, I. et al. Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria. Eur J Pediatr 164, 395–396 (2005). https://doi.org/10.1007/s00431-005-1638-7
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DOI: https://doi.org/10.1007/s00431-005-1638-7