sapropterin has been researched along with Adult-Onset Dystonias in 15 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (13.33) | 18.2507 |
| 2000's | 7 (46.67) | 29.6817 |
| 2010's | 5 (33.33) | 24.3611 |
| 2020's | 1 (6.67) | 2.80 |
| Authors | Studies |
|---|---|
| Cherian, A; Divya, KP; Paramasivan, NK | 1 |
| Bjerrum, OJ; Dupont, E; Hellmund, V; Jensen, TS; Jespersgaard, C; Lykkesfeldt, J; Møller, AT; Møller, LB; Nachman, G; Nasser, A; Thorborg, SS | 1 |
| Bjerrum, OJ; Dalbøge, LS; Dupont, E; Heegaard, AM; Jensen, TS; Larsen, M; Møller, AT; Møller, LB; Nasser, A | 1 |
| Homma, D; Ichinose, H; Kondo, K; Nomura, T; Sumi-Ichinose, C | 1 |
| Ichinose, H; Nomura, T; Sumi-Ichinose, C | 1 |
| Abada, M; Bouteiller, D; Brice, A; Camuzat, A; Castelnau, P; Cazeneuve, C; Chabrol, B; Clot, F; Damier, P; Doummar, D; Durr, A; Fedirko, E; Gil, R; Grabli, D; Hutchinson, M; Landrieu, P; LeGuern, E; Nguyen, K; Picard, F; Ponsot, G; Roze, E; Sân, C; Thobois, S; Toutain, A; Vidailhet, M; Ward, AJ | 1 |
| Bhatia, K; Bleasdale-Barr, K; Davis, MB; Deanfield, JE; Donald, A; Heales, S; Hingorani, AD; Mason, L; Mathias, CJ; Mayahi, L; Murray-Rust, J; Pellerin, D; Sweeney, MG; Trender-Gerhard, I; Watson, L; Wood, N | 1 |
| Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T | 1 |
| Furukawa, Y | 1 |
| Hanajima, R; Nomura, Y; Segawa, M; Ugawa, Y | 1 |
| Gabriel, H; Hoffmann, GF; Opladen, T; Storch, A; von Mering, M | 1 |
| Ichinose, H; Inagaki, H; Nagatsu, T; Ohye, T; Suzuki, T | 2 |
| Canevari, L; Clark, JB; Heales, SJ; Land, JM | 1 |
| Cianchetti, C; di Porzio, U; Lilliu, V; Mancosu, C; Sorrentino, G; Zuddas, A | 1 |
2 review(s) available for sapropterin and Adult-Onset Dystonias
| Article | Year |
|---|---|
Dopa-responsive dystonia, DRD-plus and DRD look-alike: a pragmatic review.
Topics: Alcohol Oxidoreductases; Biopterins; Dopamine; Dystonia; Dystonic Disorders; Humans; Levodopa | 2021 |
GTP cyclohydrolase regulation: implications for brain development and function.
Topics: Animals; Biopterins; Brain; Disease Models, Animal; Dystonic Disorders; GTP Cyclohydrolase; Humans; Phenylketonurias; Transcription, Genetic | 2013 |
13 other study(ies) available for sapropterin and Adult-Onset Dystonias
| Article | Year |
|---|---|
Heterozygous mutations in GTP-cyclohydrolase-1 reduce BH4 biosynthesis but not pain sensitivity.
Topics: Adult; Age Factors; Aged; Aged, 80 and over; Animals; Biopterins; Capsaicin; Cells, Cultured; Cohort Studies; Cytokines; Dystonic Disorders; Female; Fibroblasts; Genotype; GTP Cyclohydrolase; Humans; Male; Middle Aged; Mutation; Neoptera; Pain; Pain Threshold; Sex Factors; Young Adult | 2018 |
Impaired behavioural pain responses in hph-1 mice with inherited deficiency in GTP cyclohydrolase 1 in models of inflammatory pain.
Topics: Animals; Behavior, Animal; Biopterins; Biosynthetic Pathways; Capsaicin; Chromatography, High Pressure Liquid; Chromatography, Reverse-Phase; Disease Models, Animal; Dystonic Disorders; Formaldehyde; Freund's Adjuvant; GTP Cyclohydrolase; Hot Temperature; Inflammation; Inheritance Patterns; Mice; Mice, Inbred C57BL; Motor Activity; Nociception; Pain; Phenylketonurias; Physical Stimulation; Rats; Stress, Mechanical | 2013 |
Metabolism of tetrahydrobiopterin: its relevance in monoaminergic neurons and neurological disorders.
Topics: Animals; Biogenic Monoamines; Biopterins; Dystonic Disorders; GTP Cyclohydrolase; Mice; Mice, Knockout; Mixed Function Oxygenases; Nervous System Diseases; Neurons; Parkinson Disease | 2008 |
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Topics: Adolescent; Adult; Age of Onset; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Dopamine; Dopamine Agents; Dystonic Disorders; Female; GTP Cyclohydrolase; Heterozygote; Humans; Levodopa; Male; Middle Aged; Point Mutation; Tyrosine 3-Monooxygenase; Ubiquitin-Protein Ligases; Young Adult | 2009 |
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Topics: Adaptation, Physiological; Adolescent; Age of Onset; Biopterins; Case-Control Studies; Child; Child, Preschool; Dystonic Disorders; Endothelium, Vascular; Epinephrine; GTP Cyclohydrolase; Heart Function Tests; Humans; Mutation; Nitrogen Oxides; Norepinephrine; Sympathetic Nervous System | 2010 |
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine | 2013 |
[Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
Topics: Biopterins; Child; Chromosomes, Human, Pair 14; Dystonic Disorders; GTP Cyclohydrolase; Humans; Levodopa; Tyrosine 3-Monooxygenase | 2006 |
Intracortical inhibition of the motor cortex in Segawa disease (DYT5).
Topics: Adult; Basal Ganglia; Biopterins; Brain Diseases, Metabolic; Diagnosis, Differential; Dopamine; Dopamine Agents; Dystonic Disorders; Evoked Potentials, Motor; Female; gamma-Aminobutyric Acid; GTP Cyclohydrolase; Humans; Interneurons; Levodopa; Male; Middle Aged; Motor Cortex; Muscle, Skeletal; Neural Inhibition; Neural Pathways; Phenotype; Transcranial Magnetic Stimulation | 2007 |
A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.
Topics: Adult; Base Composition; Biopterins; Chromosome Aberrations; Chromosome Deletion; DNA Mutational Analysis; Dopamine; Dystonic Disorders; Exons; Female; Fibroblasts; Frameshift Mutation; Genes, Dominant; GTP Cyclohydrolase; Guanine Nucleotides; Heterozygote; Humans; Mutagenesis, Insertional; Neopterin; Sequence Analysis, DNA; Sequence Analysis, Protein; Serotonin | 2008 |
Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia.
Topics: Amino Acid Sequence; Biopterins; DNA Mutational Analysis; Dystonic Disorders; Frameshift Mutation; Gene Expression Regulation; Genes, Dominant; Genes, Recessive; GTP Cyclohydrolase; Humans; Molecular Sequence Data; Neuroblastoma; Phenylalanine; Point Mutation; Recombinant Fusion Proteins; Tumor Cells, Cultured | 1999 |
Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse.
Topics: Animals; Biopterins; Brain; Cerebellum; Cyclic GMP; Dystonic Disorders; GTP Cyclohydrolase; Mice; Mice, Neurologic Mutants; Nerve Tissue Proteins; Nitric Oxide; Nitric Oxide Synthase; Nitric Oxide Synthase Type I; Prosencephalon; Second Messenger Systems; Serotonin; Stimulation, Chemical | 1999 |
Molecular mechanisms of hereditary progressive dystonia with marked diurnal fluctuation, Segawa's disease.
Topics: Biopterins; Dystonia; Dystonic Disorders; GTP Cyclohydrolase; Humans | 2000 |
6R-Tetrahydrobiopterin induces dopamine synthesis in a human neuroblastoma cell line, LA-N-1. A cellular model of DOPA-responsive dystonia.
Topics: 3,4-Dihydroxyphenylacetic Acid; 5-Hydroxytryptophan; Biopterins; Dopamine; Dopamine Antagonists; Dystonic Disorders; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Models, Biological; Monoamine Oxidase Inhibitors; Neuroblastoma; Neurons; Serotonin; Serotonin Antagonists; Substantia Nigra; Tryptophan Hydroxylase; Tumor Cells, Cultured; Tyrosine 3-Monooxygenase | 2002 |