Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

Author:

Zurflüh M. R.,Fiori L.,Fiege B.,Ozen I.,Demirkol M.,Gärtner K. H.,Thöny B.,Giovannini M.,Blau N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. 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.

2. Blau N, Erlandsen H (2004) The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab 82: 101–111.

3. Blau N, Thöny B, Cotton RGH, Hyland K (2001) Disorders of tetrahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1725–1776.

4. Desviat LR, Pérez B, Bèlanger-Quintana A, et al (2004) Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype. Mol Genet Metab 82: 157–162.

5. Dhondt JL, Farriaux JP (1982) Relationships between phenylalanine and biopterin metabolisms. In: Wachter H, Curtius HC, Pfleiderer W, eds. Biochemical and Clinical Aspects of Pteridines. Berlin: Walter de Gruyter, 319–336.

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