pteridines has been researched along with Amino Acid Metabolism Disorders, Inborn in 18 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Tetrahydrobiopterin deficiency is a rare cause of hyperphenylalaninemic syndromes." | 2.37 | Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey. ( Dhondt, JL, 1984) |
| "Since subvariants of patients with BH4 deficiency exist, homovanillic acid, 5-hydroxyindole acetic acid, pterins, phenylalanine, and tyrosine in cerebrospinal fluid should be measured for diagnosis and the control of therapy." | 1.27 | Differential diagnosis of tetrahydrobiopterin deficiency. ( Curtius, HC; Niederwieser, A; Ponzone, A, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 12 (66.67) | 18.7374 |
| 1990's | 2 (11.11) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (16.67) | 24.3611 |
| 2020's | 1 (5.56) | 2.80 |
| Authors | Studies |
|---|---|
| Kaczmarek, AT | 1 |
| Bender, D | 1 |
| Gehling, T | 1 |
| Kohl, JB | 1 |
| Daimagüler, HS | 1 |
| Santamaria-Araujo, JA | 1 |
| Liebau, MC | 1 |
| Koy, A | 1 |
| Cirak, S | 1 |
| Schwarz, G | 1 |
| Zaki, MS | 1 |
| Selim, L | 1 |
| El-Bassyouni, HT | 1 |
| Issa, MY | 1 |
| Mahmoud, I | 1 |
| Ismail, S | 1 |
| Girgis, M | 1 |
| Sadek, AA | 1 |
| Gleeson, JG | 1 |
| Abdel Hamid, MS | 1 |
| Sass, JO | 1 |
| Gunduz, A | 1 |
| Araujo Rodrigues Funayama, C | 1 |
| Korkmaz, B | 1 |
| Dantas Pinto, KG | 1 |
| Tuysuz, B | 1 |
| Yanasse Dos Santos, L | 1 |
| Taskiran, E | 1 |
| de Fátima Turcato, M | 1 |
| Lam, CW | 1 |
| Reiss, J | 1 |
| Walter, M | 1 |
| Yalcinkaya, C | 1 |
| Camelo Junior, JS | 1 |
| Mills, PB | 1 |
| Footitt, EJ | 1 |
| Ceyhan, S | 1 |
| Waters, PJ | 1 |
| Jakobs, C | 1 |
| Clayton, PT | 1 |
| Struys, EA | 1 |
| McInnes, RR | 1 |
| Kaufman, S | 4 |
| Warsh, JJ | 1 |
| Van Loon, GR | 1 |
| Milstien, S | 2 |
| Kapatos, G | 1 |
| Soldin, S | 1 |
| Walsh, P | 1 |
| MacGregor, D | 1 |
| Hanley, WB | 1 |
| Dhondt, JL | 2 |
| Güttler, F | 1 |
| Lou, H | 1 |
| Lykkelund, C | 1 |
| Niederwieser, A | 2 |
| Largilliere, C | 1 |
| Ardouin, P | 1 |
| Farriaux, JP | 1 |
| Dautrevaux, M | 1 |
| Nixon, JC | 1 |
| Lee, CL | 1 |
| Bartholomé, K | 2 |
| Bakker, HD | 1 |
| Ichida, K | 1 |
| Hosoya, T | 1 |
| Danks, DM | 1 |
| Clayton, BE | 1 |
| Curtius, H | 1 |
| Gröbe, H | 1 |
| Leeming, R | 1 |
| Pfleiderer, W | 1 |
| Rembold, H | 1 |
| Rey, F | 1 |
| Grimm, U | 1 |
| Knapp, A | 1 |
| Schlenzka, K | 1 |
| Reddemann, H | 1 |
| Roth, A | 1 |
| Nogues, C | 1 |
| Monnet, JP | 1 |
| Ogier, H | 1 |
| Saudubray, JM | 1 |
| Ponzone, A | 1 |
| Curtius, HC | 1 |
| Smith, I | 1 |
| Hyland, K | 1 |
| Kendall, B | 1 |
| Frézal, J | 1 |
2 reviews available for pteridines and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; | 1984 |
[Molybdenum cofactor deficiency].
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Coenzymes; Diagnos | 1998 |
16 other studies available for pteridines and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Coenzymes; Heme; Humans; Metalloproteins; Mo | 2022 |
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Topics: Amino Acid Metabolism, Inborn Errors; Coenzymes; Egypt; Humans; Infant, Newborn; Infant, Newborn, Di | 2016 |
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Topics: Amino Acid Metabolism, Inborn Errors; Brazil; Coenzymes; Diagnosis, Differential; DNA Mutational Ana | 2010 |
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
Topics: 2-Aminoadipic Acid; Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Coenzymes; Cysteine; Hu | 2012 |
Biopterin synthesis defect. Treatment with L-dopa and 5-hydroxytryptophan compared with therapy with a tetrahydropterin.
Topics: 5-Hydroxytryptophan; Amino Acid Metabolism, Inborn Errors; Biopterins; Carbidopa; Catecholamines; Do | 1984 |
Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biopterins; Child; Child, Preschool; Electroenceph | 1984 |
Diagnosis of variants of hyperphenylalaninemia by determination of pterins in urine.
Topics: Adolescent; Adult; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Child; Child, Pres | 1981 |
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Chromatography, High Pressure Liquid; Humans; Live | 1980 |
[Remember hereditary metabolic diseases in children in which no satisfactory diagnosis can be established].
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Biotinidase; Child; Child, Preschool; Coenzym | 1993 |
Malignant hyperphenylalaninaemia--current status (June 1977).
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; | 1978 |
[Phenylalanine hydroxylase activity in the liver as a parameter for distinguishing various forms of hyperphenylalaninemias (author's transl)].
Topics: Adolescent; Adult; Amines; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Hu | 1975 |
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Brain; Child, Preschool; Coenzymes; Femal | 1985 |
Hyperphenylalaninaemia caused by defects in biopterin metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biogenic Amines; Biopterins; Brain; Humans; Phenylala | 1985 |
Differential diagnosis of tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biopterins; Diagnosis, Differential; GTP Cyclohydrolase; Human | 1985 |
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Biogenic Amines; Biopterins; Brain; Folic Acid; Folic Acid Def | 1985 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Mapl | 1972 |