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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies

Orphanet journal of rare diseases, 2020-05, Vol.15 (1), p.126-126, Article 126

2020

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

Brain (London, England : 1878), 2005-10, Vol.128 (10), p.2291-2296

2005

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Tetrahydrobiopterin: biochemistry and pathophysiology

Biochemical journal, 2011-09, Vol.438 (3), p.397-414

2011

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The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

Nature (London), 2018-11, Vol.563 (7732), p.564-568

2018

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

Archives of biochemistry and biophysics, 2003-08, Vol.416 (2), p.180-187

2003

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Peripheralized sepiapterin reductase inhibition as a safe analgesic therapy

Frontiers in pharmacology, 2023-05, Vol.14, p.1173599-1173599

2023

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Formulation and clinical evaluation of carbidopa/levodopa oral solution for the treatment of sepiapterin reductase deficiency

European journal of pharmaceutics and biopharmaceutics, 2024-10, Vol.203, p.114429, Article 114429

2024

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Diurnal Changes in Protein Expression at the Blood–Brain Barrier in Mice

Biological and Pharmaceutical Bulletin, 2022/06/01, Vol.45(6), pp.751-756

2022

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Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin

Talanta (Oxford), 2020-08, Vol.216, p.120951-120951, Article 120951

2020

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Tetrahydrobiopterin Biosynthesis as a Potential Target of the Kynurenine Pathway Metabolite Xanthurenic Acid

The Journal of biological chemistry, 2016-01, Vol.291 (2), p.652-657

2016

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Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Molecular syndromology, 2024-03, Vol.15 (2), p.130-135

2024

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Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome

Journal of the neurological sciences, 2021-06, Vol.425, p.117468-117468, Article 117468

2021

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Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome

Journal of the neurological sciences, 2021-06, Vol.425, p.117469-117469, Article 117469

2021

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Identification and functional analysis of carbonyl reductases related to tetrahydrobiopterin synthesis in the silkworm, Bombyx mori

Insect molecular biology, 2022-08, Vol.31 (4), p.403-416

2022

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Sepiapterin reductase: Characteristics and role in diseases

Journal of cellular and molecular medicine, 2020-09, Vol.24 (17), p.9495-9506

2020

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Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant leml from Birth to Death in the Silkworm Bombyx mori

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12083

2022

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Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice

Arthritis & rheumatology (Hoboken, N.J.), 2020-01, Vol.72 (1), p.57-66

2020

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WSV056 Inhibits Shrimp Nitric Oxide Synthase Activity by Downregulating Litopenaeus vannamei Sepiapterin Reductase to Promote White Spot Syndrome Virus Replication

Frontiers in microbiology, 2021-12, Vol.12, p.796049-796049

2021

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Analgesic Effect of Tranilast in an Animal Model of Neuropathic Pain and Its Role in the Regulation of Tetrahydrobiopterin Synthesis

International journal of molecular sciences, 2022-05, Vol.23 (11), p.5878

2022

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Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502

2021

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Tetrahydrobiopterin synthesis and metabolism is impaired in dystrophin‐deficient mdx mice and humans

Acta Physiologica, 2021-04, Vol.231 (4), p.e13627-n/a

2021

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Acute Hypobaric Hypoxia Exposure Causes Neurobehavioral Impairments in Rats: Role of Brain Catecholamines and Tetrahydrobiopterin Alterations

Neurochemical research, 2023-02, Vol.48 (2), p.471-486

2023

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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Global medical genetics, 2024-01, Vol.11 (1), p.100-112

2024

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Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.621-634

2022

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Virtual screening to identify potent sepiapterin reductase inhibitors

Bioorganic & medicinal chemistry letters, 2020-01, Vol.30 (2), p.126793-126793, Article 126793

2020

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies

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

Tetrahydrobiopterin: biochemistry and pathophysiology

The metabolite BH4 controls T cell proliferation in autoimmunity and cancer

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

Peripheralized sepiapterin reductase inhibition as a safe analgesic therapy

Formulation and clinical evaluation of carbidopa/levodopa oral solution for the treatment of sepiapterin reductase deficiency

Diurnal Changes in Protein Expression at the Blood–Brain Barrier in Mice

Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin

Tetrahydrobiopterin Biosynthesis as a Potential Target of the Kynurenine Pathway Metabolite Xanthurenic Acid

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome

Reply to: Neurometabolic causes of dystonia: Sepiapterin reductase-deficient dopamine- and serotonin-responsive dystonia-plus syndrome

Identification and functional analysis of carbonyl reductases related to tetrahydrobiopterin synthesis in the silkworm, Bombyx mori

Sepiapterin reductase: Characteristics and role in diseases

Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant leml from Birth to Death in the Silkworm Bombyx mori

Sepiapterin Reductase Inhibition Leading to Selective Reduction of Inflammatory Joint Pain in Mice and Increased Urinary Sepiapterin Levels in Humans and Mice

WSV056 Inhibits Shrimp Nitric Oxide Synthase Activity by Downregulating Litopenaeus vannamei Sepiapterin Reductase to Promote White Spot Syndrome Virus Replication

Analgesic Effect of Tranilast in an Animal Model of Neuropathic Pain and Its Role in the Regulation of Tetrahydrobiopterin Synthesis

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Tetrahydrobiopterin synthesis and metabolism is impaired in dystrophin‐deficient mdx mice and humans

Acute Hypobaric Hypoxia Exposure Causes Neurobehavioral Impairments in Rats: Role of Brain Catecholamines and Tetrahydrobiopterin Alterations

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Virtual screening to identify potent sepiapterin reductase inhibitors

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