Article
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Journal of inherited metabolic disease - 1 Dec 2006
Zurflüh M R, Fiori L, Fiege B, Ozen I, Demirkol M, Gärtner K H, Thöny B, Giovannini M, Blau N
Abstract excerpt
The oral loading test with tetrahydrobiopterin (BH(4)) is used to discriminate between variants of hyperphenylalaninaemia and to detect BH(4)-responsive patients. The outcome of the loading test depends on the genotype, dosage of BH(4), and BH(4) pharmacokinetics. A total of 71 patients with hyperphenylalaninaemia (mild to classic) were challenged with BH(4) (20 mg/kg) according to different protocols (1 x 20 mg...
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