Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
- 1 December 2005
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 86, 86-90
- https://doi.org/10.1016/j.ymgme.2005.05.013
Abstract
No abstract availableThis publication has 17 references indexed in Scilit:
- Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyMolecular Genetics and Metabolism, 2004
- The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyMolecular Genetics and Metabolism, 2004
- Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase GenePediatric Research, 2004
- Biopterin responsive phenylalanine hydroxylase deficiencyGenetics in Medicine, 2004
- Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuriaMolecular Genetics and Metabolism, 2003
- Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyHuman Mutation, 2003
- Tetrahydrobiopterin as an Alternative Treatment for Mild PhenylketonuriaNew England Journal of Medicine, 2002
- High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002Molecular Genetics and Metabolism, 2002
- Tetrahydrobiopterin Responsiveness in Phenylketonuria Differs between Patients with the Same GenotypeMolecular Genetics and Metabolism, 2001
- A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic PhenotypeAmerican Journal of Human Genetics, 1998