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sapropterin and Metabolism, Inborn Errors

sapropterin has been researched along with Metabolism, Inborn Errors in 31 studies

Research

Studies (31)

TimeframeStudies, this research(%)All Research%
pre-19906 (19.35)18.7374
1990's13 (41.94)18.2507
2000's6 (19.35)29.6817
2010's5 (16.13)24.3611
2020's1 (3.23)2.80

Authors

AuthorsStudies
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, Y1
Tabarki, B; Thabet, F1
Allen-Vercoe, E; Arning, E; Belik, J; Bottiglieri, T; Daigneault, MC; Pan, J; Shifrin, Y1
Longo, N1
Dhondt, JL1
Allen, GF; Clayton, PT; Footitt, EJ; Heales, SJ; Mills, PB; Oppenheim, M1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T1
Coskun, T; Ersoy, F; Karagoz, T; Ozalp, I; Ozkaya, E1
Chung, JH; Kim, JM; Laipis, P; Lee, YJ; Oh, SP; Park, S; Park, YS; Peris, J; Yang, S1
Lukacs, Z; Santer, R1
Heales, SJ; Hyland, K; Lam, AA1
Bickel, H1
Berlow, S; Hoganson, G; Kaufman, S; Matalon, R; Milstien, S; Naylor, E; Schuett, V; Seifert, W1
Atarés, M; Blau, N; Cardesa-Garcia, J; Joller, P; Niederwieser, A; Wang, M1
Blau, N; Cabral, A; de Almeida, IT; Eusébio, F; Leandro, PP; Matasovic, A; Portela, R; Tasso, T1
Brand, MP; Clark, JB; Heales, SJ; Land, JM1
Blau, N; Dhondt, JL1
Imamura, T; Isshiki, G; Nakajima, T; Oura, T; Sawada, Y; Shintaku, H1
Hyland, K2
Blau, N; Ponzone, A; Schuler, A1
Blau, N; de Klerk, JB; Duran, M; Heizmann, CW; Kierat, L; Smeitink, JA; Thöny, B1
Beck, M; Blau, N; Matern, D1
Lamers, KJ; Wevers, RA1
Suzuki, T1
Ichinose, H; Nagatsu, T1
Blau, N; Bonafé, L; Kierat, L; Leimbacher, W; Thöny, B1
Kaufman, S1
Blau, N1
Andre, S; Dhondt, JL; Dorche, C; Forzy, G; Guibaud, P; Hayte, JM; Rolland, MO1
Collins, JE; Leonard, JV1

Reviews

10 review(s) available for sapropterin and Metabolism, Inborn Errors

ArticleYear
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH
    Orphanet journal of rare diseases, 2020, 05-26, Volume: 15, Issue:1

    Topics: Biopterins; Dystonia; Humans; Metabolism, Inborn Errors; Phenylketonurias

2020
[Vitamin-responsive epilepsies: an update].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2013, Volume: 20, Issue:11

    Topics: Avitaminosis; Biopterins; Biotinidase; Enzyme Replacement Therapy; Epilepsy; Folic Acid; Humans; Metabolism, Inborn Errors; Pyridoxine; Vitamin B Complex

2013
Disorders of biopterin metabolism.
    Journal of inherited metabolic disease, 2009, Volume: 32, Issue:3

    Topics: Alcohol Oxidoreductases; Animals; Biopterins; GTP Cyclohydrolase; Humans; Hydro-Lyases; Metabolism, Inborn Errors; Models, Biological; Oxidoreductases

2009
Abnormalities of biogenic amine metabolism.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:4

    Topics: Biopterins; Catecholamines; Dopamine; Humans; Metabolism, Inborn Errors; Serotonin

1993
[Inborn errors of catecholamine metabolism].
    Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2

    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.
    Molecular neurobiology, 1999, Volume: 19, Issue:1

    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.
    Seminars in perinatology, 1999, Volume: 23, Issue:2

    Topics: Biogenic Monoamines; Biopterins; Catecholamines; Humans; Metabolism, Inborn Errors; Phenylalanine; Serotonin

1999
Biopterin-responsive hyperphenylalaninemia.
    Journal of nutritional science and vitaminology, 1992, Volume: Spec No

    Topics: Biopterins; Humans; Metabolism, Inborn Errors; Molecular Structure; Oxidoreductases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias

1992
Inborn errors of pterin metabolism.
    Annual review of nutrition, 1988, Volume: 8

    Topics: Biopterins; Female; Humans; Male; Metabolism, Inborn Errors; Pterins

1988
The dietary management of inborn errors of metabolism.
    Human nutrition. Applied nutrition, 1985, Volume: 39, Issue:4

    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

Other Studies

21 other study(ies) available for sapropterin and Metabolism, Inborn Errors

ArticleYear
Intestinal microbiota as a tetrahydrobiopterin exogenous source in hph-1 mice.
    Scientific reports, 2017, 01-12, Volume: 7

    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.
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2

    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.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    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.
    Molecular genetics and metabolism, 2013, Volume: 108, Issue:3

    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.
    Indian pediatrics, 2003, Volume: 40, Issue:9

    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.
    American journal of human genetics, 2006, Volume: 78, Issue:4

    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.
    Molecular nutrition & food research, 2006, Volume: 50, Issue:4-5

    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.
    Journal of inherited metabolic disease, 2007, Volume: 30, Issue:2

    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].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1983, Volume: 131, Issue:8

    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.
    Pediatrics, 1984, Volume: 74, Issue:6

    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.
    European journal of pediatrics, 1984, Volume: 141, Issue:4

    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.
    Advances in experimental medicine and biology, 1993, Volume: 338

    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.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:1

    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.
    Advances in experimental medicine and biology, 1993, Volume: 338

    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.
    Advances in experimental medicine and biology, 1993, Volume: 338

    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.
    European journal of pediatrics, 1995, Volume: 154, Issue:12

    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.
    Biochemical and molecular medicine, 1996, Volume: 58, Issue:2

    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.
    European journal of pediatrics, 1996, Volume: 155, Issue:9

    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.
    Multiple sclerosis (Houndmills, Basingstoke, England), 1998, Volume: 4, Issue:1

    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.
    Clinical chemistry, 2001, Volume: 47, Issue:3

    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.
    European journal of pediatrics, 1988, Volume: 147, Issue:2

    Topics: Biogenic Amines; Biopterins; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Neopterin; Phenylalanine

1988