sapropterin has been researched along with Metabolism, Inborn Errors in 31 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (19.35) | 18.7374 |
| 1990's | 13 (41.94) | 18.2507 |
| 2000's | 6 (19.35) | 29.6817 |
| 2010's | 5 (16.13) | 24.3611 |
| 2020's | 1 (3.23) | 2.80 |
| Authors | Studies |
|---|---|
| Artuch, R; Assmann, B; Burlina, A; Cortès-Saladelafont, E; Friedman, J; García-Cazorla, A; Goez, H; Heales, S; Hoffmann, GF; Honzík, T; Horvath, G; Jeltsch, K; Kulhánek, J; Kurian, MA; Kuseyri Hübschmann, O; Leuzzi, V; López-Laso, E; Mastrangelo, M; Opladen, T; Pearson, TS; Pons, R; Pope, S; Porta, F; Regal, L; Scholl-Bürgi, S; Sivri, HS; Thöny, B; Verbeek, MM; Wassenberg, T; Yildiz, Y | 1 |
| Tabarki, B; Thabet, F | 1 |
| Allen-Vercoe, E; Arning, E; Belik, J; Bottiglieri, T; Daigneault, MC; Pan, J; Shifrin, Y | 1 |
| Longo, N | 1 |
| Dhondt, JL | 1 |
| Allen, GF; Clayton, PT; Footitt, EJ; Heales, SJ; Mills, PB; Oppenheim, M | 1 |
| Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T | 1 |
| Coskun, T; Ersoy, F; Karagoz, T; Ozalp, I; Ozkaya, E | 1 |
| Chung, JH; Kim, JM; Laipis, P; Lee, YJ; Oh, SP; Park, S; Park, YS; Peris, J; Yang, S | 1 |
| Lukacs, Z; Santer, R | 1 |
| Heales, SJ; Hyland, K; Lam, AA | 1 |
| Bickel, H | 1 |
| Berlow, S; Hoganson, G; Kaufman, S; Matalon, R; Milstien, S; Naylor, E; Schuett, V; Seifert, W | 1 |
| Atarés, M; Blau, N; Cardesa-Garcia, J; Joller, P; Niederwieser, A; Wang, M | 1 |
| Blau, N; Cabral, A; de Almeida, IT; Eusébio, F; Leandro, PP; Matasovic, A; Portela, R; Tasso, T | 1 |
| Brand, MP; Clark, JB; Heales, SJ; Land, JM | 1 |
| Blau, N; Dhondt, JL | 1 |
| Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H | 1 |
| Hyland, K | 2 |
| Blau, N; Ponzone, A; Schuler, A | 1 |
| Blau, N; de Klerk, JB; Duran, M; Heizmann, CW; Kierat, L; Smeitink, JA; Thöny, B | 1 |
| Beck, M; Blau, N; Matern, D | 1 |
| Lamers, KJ; Wevers, RA | 1 |
| Suzuki, T | 1 |
| Ichinose, H; Nagatsu, T | 1 |
| Blau, N; Bonafé, L; Kierat, L; Leimbacher, W; Thöny, B | 1 |
| Kaufman, S | 1 |
| Blau, N | 1 |
| Andre, S; Dhondt, JL; Dorche, C; Forzy, G; Guibaud, P; Hayte, JM; Rolland, MO | 1 |
| Collins, JE; Leonard, JV | 1 |
10 review(s) available for sapropterin and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH
Topics: Biopterins; Dystonia; Humans; Metabolism, Inborn Errors; Phenylketonurias | 2020 |
[Vitamin-responsive epilepsies: an update].
Topics: Avitaminosis; Biopterins; Biotinidase; Enzyme Replacement Therapy; Epilepsy; Folic Acid; Humans; Metabolism, Inborn Errors; Pyridoxine; Vitamin B Complex | 2013 |
Disorders of biopterin metabolism.
Topics: Alcohol Oxidoreductases; Animals; Biopterins; GTP Cyclohydrolase; Humans; Hydro-Lyases; Metabolism, Inborn Errors; Models, Biological; Oxidoreductases | 2009 |
Abnormalities of biogenic amine metabolism.
Topics: Biopterins; Catecholamines; Dopamine; Humans; Metabolism, Inborn Errors; Serotonin | 1993 |
[Inborn errors of catecholamine metabolism].
Topics: 5-Hydroxytryptophan; Aromatic-L-Amino-Acid Decarboxylases; Biopterins; Catecholamines; Diagnosis, Differential; Dopamine beta-Hydroxylase; Droxidopa; Humans; Metabolism, Inborn Errors; Prognosis | 1998 |
Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.
Topics: Amino Acid Sequence; Animals; Biopterins; Coenzymes; Enzyme Activation; Enzymes; Humans; Metabolism, Inborn Errors; Molecular Sequence Data; Pteridines | 1999 |
Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism.
Topics: Biogenic Monoamines; Biopterins; Catecholamines; Humans; Metabolism, Inborn Errors; Phenylalanine; Serotonin | 1999 |
Biopterin-responsive hyperphenylalaninemia.
Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1992 |
Inborn errors of pterin metabolism.
Topics: Biopterins; Female; Humans; Male; Metabolism, Inborn Errors; Pterins | 1988 |
The dietary management of inborn errors of metabolism.
Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Essential; Biopterins; Child; Child, Preschool; Cystathionine beta-Synthase; Dietary Carbohydrates; Dietary Proteins; Energy Metabolism; Fructose Intolerance; Galactosemias; Gluconeogenesis; Glycogen Storage Disease Type I; Homocystinuria; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine Hydroxylase; Phenylketonurias | 1985 |
21 other study(ies) available for sapropterin and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Intestinal microbiota as a tetrahydrobiopterin exogenous source in hph-1 mice.
Topics: Actinobacteria; Animals; Animals, Newborn; Biopterins; Cells, Cultured; Dystonia; Feces; Gastrointestinal Microbiome; Humans; Metabolism, Inborn Errors; Mice; Mice, Inbred C57BL; Mice, Knockout; Nitric Oxide Synthase; Phosphorus-Oxygen Lyases; Polycomb Repressive Complex 1; Psychomotor Disorders | 2017 |
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Pteridines | 2010 |
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Cysteine; Epilepsy; False Positive Reactions; Female; Free Radicals; Humans; Infant; Infant, Newborn; Levodopa; Male; Metabolism, Inborn Errors; Middle Aged; Nervous System Diseases; Oxygen; Pyridoxal Phosphate; Reference Values; Reproducibility of Results; Sulfites; Tetrahydrofolates | 2011 |
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 |
Immune function in children with classical phenylketonuria and tetrahydrobiopterin deficiencies.
Topics: B-Lymphocytes; Biopterins; Child; Child, Preschool; Female; Humans; Immunoglobulin G; Immunoglobulin M; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; T-Lymphocytes | 2003 |
A murine model for human sepiapterin-reductase deficiency.
Topics: Alcohol Oxidoreductases; Animals; Base Sequence; Biopterins; Catecholamines; Disease Models, Animal; DNA Primers; Growth; Humans; Immunohistochemistry; Locomotion; Metabolism, Inborn Errors; Mice; Mice, Knockout; Phenotype; Phenylalanine; Serotonin | 2006 |
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Topics: Amino Acids; Biopterins; Circadian Rhythm; False Positive Reactions; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Phenylalanine; Phenylketonurias; Spectrometry, Mass, Electrospray Ionization | 2006 |
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states.
Topics: Animals; Biological Availability; Biopterins; Brain; Carrier Proteins; Glutathione; GTP Cyclohydrolase; Kidney; Lipopolysaccharides; Liver; Metabolism, Inborn Errors; Mice; Mutation; Nitrates; Nitric Oxide; Nitrites; Osmolar Concentration; Polycomb Repressive Complex 1 | 2007 |
[Diet therapy and coenzyme therapy in hereditary metabolic diseases].
Topics: Biopterins; Child; Child, Preschool; Coenzymes; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Neurotransmitter Agents; Phenylketonurias; Pregnancy; Pregnancy Complications | 1983 |
Biopterin synthesis defects: problems in diagnosis.
Topics: Biopterins; Diet; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neopterin; Neurotransmitter Agents; Phenylalanine; Pteridines | 1984 |
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
Topics: Adolescent; Aminohydrolases; Biopterins; Child; Child, Preschool; Dopamine; Female; GTP Cyclohydrolase; Humans; Infant; Liver; Metabolism, Inborn Errors; Muscle Hypotonia; Neopterin; Phenylalanine; Pteridines; Serotonin | 1984 |
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Portugal; Pterins | 1993 |
Tetrahydrobiopterin deficiency and brain nitric oxide synthase in the hph1 mouse.
Topics: Amino Acid Oxidoreductases; Animals; Arginine; Biopterins; Brain; GTP Cyclohydrolase; Kinetics; Metabolism, Inborn Errors; Mice; Mice, Inbred C57BL; Mice, Inbred CBA; Mutation; Nitric Oxide Synthase | 1995 |
Tetrahydrobiopterin deficiency and an international database of patients.
Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries | 1993 |
Experimental research on a fetal treatment for tetrahydrobiopterin deficiency.
Topics: Adrenal Glands; Animals; Biopterins; Corpus Striatum; Dopamine; Epinephrine; Female; Fetal Blood; Guinea Pigs; Hypoxanthines; Infusions, Intravenous; Liver; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Norepinephrine; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1993 |
Monoamine oxidase inhibitors in tetrahydrobiopterin deficiency.
Topics: Biopterins; Child; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Monoamine Oxidase Inhibitors; Selegiline | 1995 |
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
Topics: Administration, Oral; Adult; Antioxidants; Biopterins; Child, Preschool; Coenzymes; Female; Heterozygote; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Metalloproteins; Middle Aged; Molybdenum Cofactors; Pregnancy; Pteridines; Pterins; Xanthine Dehydrogenase; Xanthopterin | 1996 |
Tetrahydrobiopterin induced neonatal tyrosinaemia.
Topics: Alcohol Oxidoreductases; Biopterins; Case-Control Studies; Female; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phosphorus-Oxygen Lyases; Tyrosine | 1996 |
Abnormalities of biogenic amines affecting the metabolism of serotonin and catecholamines.
Topics: Aromatic-L-Amino-Acid Decarboxylases; Biopterins; Catecholamines; Child; Child, Preschool; Dopa Decarboxylase; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methoxyhydroxyphenylglycol; Serotonin; Tyrosine 3-Monooxygenase | 1998 |
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Topics: Alcohol Oxidoreductases; Biopterins; Cell Extracts; Cells, Cultured; Cytokines; Dihydropteridine Reductase; Dihydroxyphenylalanine; Dopamine Agents; Dystonia; Female; Fibroblasts; GTP Cyclohydrolase; Humans; Male; Metabolism, Inborn Errors; Neopterin; Phosphorus-Oxygen Lyases; Reference Values; Skin | 2001 |
Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase deficiency.
Topics: Biogenic Amines; Biopterins; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neopterin; Phenylalanine | 1988 |