Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study
- 1 December 2005
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 86, 91-95
- https://doi.org/10.1016/j.ymgme.2005.09.014
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuriaMolecular Genetics and Metabolism, 2005
- Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotypeMolecular 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
- Plasma tetrahydrobiopterin and its pharmacokinetic following oral administrationMolecular Genetics and Metabolism, 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
- The influence of mutations on enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiencyEuropean Journal of Pediatrics, 1996
- Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern EuropeHuman Molecular Genetics, 1993
- A simple method for identification of point mutations using denaturing gradient gel electrophoresisNucleic Acids Research, 1993