Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control

@article{Lindner2009BloodPC,
  title={Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control},
  author={Martin Lindner and Gwendolyn Gramer and Sven F Garbade and Peter Burgard},
  journal={Journal of Inherited Metabolic Disease},
  year={2009},
  volume={32},
  pages={514-522}
}
SummaryTetrahydrobiopterin (BH4) cofactor loading is a standard procedure to differentiate defects of BH4 metabolism from phenylalanine hydroxylase (PAH) deficiency. BH4 responsiveness also exists in PAH-deficient patients with high residual PAH activity. Unexpectedly, single cases with presumed nil residual PAH activity have been reported to be BH4 responsive, too. BH4 responsiveness has been defined either by a ≥30% reduction of blood Phe concentration after a single BH4 dose or by a decline… CONTINUE READING
BETA

Similar Papers

References

Publications referenced by this paper.
SHOWING 1-10 OF 36 REFERENCES

Study design and description of patients

  • European Journal of Pediatrics
  • 1990
VIEW 1 EXCERPT
HIGHLY INFLUENTIAL

VARIANT FORMS OF PHENYLKETONURIA

  • The Lancet
  • 1976
VIEW 1 EXCERPT
HIGHLY INFLUENTIAL