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In Vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

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Abstract

The results ofin vivo determinations of phenylalanine-hydroxylating capacity using deuterated phenylalanine loads are compared with phenylalanine hydroxylase activity in liver biopsy samples and the results of oral protein challenge.

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References

  1. Bartholome, K., Lutz, P. and Bickle, H. Determination of phenylalanine hydroxylase activity in patients with phenylketonuria and hyperphenylalaninemia.Pediatr. Res. 9 (1975) 899

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  3. Curtius, H.-Ch., Niederwieser, A., Viscontini, M., Schircks, B., Otten, A., Schaub, J., Scheibenreiter, S. and Schmidt, H. Atypical phenylketonuria due to tetrahydrobiopterin deficiency. Diagnosis and treatment with tetrahydrobiopterin, dihydrobiopterin and sepiapterin.Clin. Chim. Acta 93 (1979) 251

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Trefz, F.K., Bartholomé, K., Bickel, H. et al. In Vivo residual activities of the phenylalanine hydroxylating system in phenylketonuria and variants. J Inherit Metab Dis 4, 101–102 (1981). https://doi.org/10.1007/BF02263611

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Keywords

  • Public Health
  • Internal Medicine
  • Metabolic Disease
  • Phenylalanine
  • Liver Biopsy