Two Greek siblings with sepiapterin reductase deficiency
- 31 August 2008
- journal article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 94 (4), 403-409
- https://doi.org/10.1016/j.ymgme.2008.04.003
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Aromatic l-amino acid decarboxylase enzyme activity in deficient patients and heterozygotesMolecular Genetics and Metabolism, 2007
- Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term TherapyPediatric Neurology, 2006
- Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystoniaMolecular Genetics and Metabolism, 2006
- Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductaseHuman Mutation, 2006
- Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorderBrain, 2005
- Cerebrospinal fluid analysis differentiates multiple system atrophy from Parkinson's diseaseMovement Disorders, 2003
- 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
- Human 3α-hydroxysteroid dehydrogenase isoforms (AKR1C1‒AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormonesBiochemical Journal, 2000
- Human carbonyl and aldose reductases: New catalytic functions in tetrahydrobiopterin biosynthesisBiochemical and Biophysical Research Communications, 1991