Assessment of Tetrahydrobiopterin (BH4) Responsiveness in Phenylketonuria
- 30 June 2007
- journal article
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 150 (6), 627-630
- https://doi.org/10.1016/j.jpeds.2007.02.017
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- 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
- BH4-sensitive hyperphenylalaninemia: new case and review of literaturePediatric Neurology, 2003
- Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiencyHuman Mutation, 2003
- High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002Molecular Genetics and Metabolism, 2002
- How practical are recommendations for dietary control in phenylketonuria?The Lancet, 2002
- Barriers to successful dietary control among pregnant women with phenylketonuriaGenetics in Medicine, 2002
- Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic FindingsJournal of Inherited Metabolic Disease, 2002
- Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonatesJournal of Inherited Metabolic Disease, 2001
- Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyThe Journal of Pediatrics, 1999