Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency-Reference-Cited by-同舟云学术

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Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

Published:2002-02 Issue:2 Volume:75 Page:174-177
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Zorzi Giovanna,Redweik Udo,Trippe Heike,Penzien Johann M.,Thöny Beat,Blau Nenad

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. Disorders of tetrahydrobiopterin and related biogenic amines;Blau,2001

2. Tetrahydrobiopterin biosynthesis, regeneration, and functions;Thöny;Biochem J,2000

3. Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency;Zorzi;J Neurochem,2001

4. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutation in the GTP cyclohydrolase I gene;Ichinose;Nature Genet,1994

5. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia;Bonafé;Am J Hum Genet,2001

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1. Peripheralized sepiapterin reductase inhibition as a safe analgesic therapy;Frontiers in Pharmacology;2023-05-12

2. Simultaneous assay of urine sepiapterin and creatinine in patients with sepiapterin reductase deficiency;Clinica Chimica Acta;2022-09

3. Dopa-Responsive Dystonia and Related Disorders;Movement Disorder Emergencies;2021-10-03

4. Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines;Nature Communications;2021-09-20

5. Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin;Talanta;2020-08

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