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Two Greek siblings with sepiapterin reductase deficiency.

লেখক

Nenad Blau

2000 -

Dimitrios I. Zafeiriou

এতে প্রকাশিত: Molecular Genetics and Metabolism

তারিখে প্রকাশিত: 2008-05-27

মূল বিষয়: ভাইবোন, sepiapterin reductase deficiency

Cites articles 16

তারিখ

শিরোনাম

লেখকগণ

2007-01-19

Aromatic L-amino acid decarboxylase enzyme activity in deficient patients and heterozygotes.
2006-11-01

Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy

Nenad Blau, Bernard Echenne, Agathe Roubertie
2006-05-02

Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

Nenad Blau, Henk D. Bakker
2006-12-01

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Nenad Blau
2006-09-01

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

Nenad Blau
2005-07-27

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder
2004-05-01

Cerebrospinal fluid analysis differentiates multiple system atrophy from Parkinson's disease

Bas Bloem
2003-08-01

Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members
2002-02-01

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.

Nenad Blau
2002-01-01

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

Nenad Blau
2001-07-06

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
2001-09-01

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency

Nenad Blau
2000-10-01

Human 3alpha-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 hormones,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 hormones
1998-08-01

Sequence and expression levels in human tissues of a new member of the aldo-keto reductase family
1991-03-01

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis.

Young Shik Park, Nenad Blau
1987-12-01

Dihydrofolate reductase-activity in brain tissue. Effect of X-irradiation

নিবন্ধ - wd:Q46575973

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