Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia
- 1 January 2002
- book chapter
- Published by Springer Nature
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase DeficiencyMolecular Genetics and Metabolism, 2001
- Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without HyperphenylalaninemiaAmerican Journal of Human Genetics, 2001
- Tetrahydrobiopterin biosynthesis, regeneration and functionsBiochemical Journal, 2000
- Dihydropteridine reductase deficiency localized to the central nervous systemJournal of Inherited Metabolic Disease, 1998
- Cloning and sequencing of cDNA encoding human sepiapterin reductase: An enzyme involved in tetrahydrobiopterin biosynthesisBiochemical and Biophysical Research Communications, 1991
- Human carbonyl and aldose reductases: New catalytic functions in tetrahydrobiopterin biosynthesisBiochemical and Biophysical Research Communications, 1991
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970