pteridines has been researched along with Phenylketonurias in 68 studies
Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
| 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) |
| "Patients with phenylalanine hydroxylase deficiency show increased concentrations of biopterins and neopterins, and reduced concentrations of serotonin and catecholamines, when phenylalanine concentrations are raised." | 2.37 | Pteridines and mono-amines: relevance to neurological damage. ( Howells, DW; Hyland, K; Smith, I, 1986) |
| "He showed mild mental retardation, and the WAIS was 46 in PIQ, 70 in VIQ and 53 in total IQ." | 1.29 | [A case report of mild from of phenylketonuria]. ( Komada, S; Kuzuhara, S; Masuzugawa, S; Narita, Y; Taniguchi, A, 1996) |
| "In a child with dihydropteridine reductase deficiency (McKusick 26163) none of four separate oral tetrahydrobiopterin loading tests resulted in a decrease of the serum phenylalanine concentration." | 1.27 | Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test. ( Lipson, A; O'Halloran, M; Potter, M; Wilken, B; Yu, J, 1984) |
| "Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage." | 1.27 | Improved diagnosis of classical vs atypical phenylketonuria by liquid chromatography. ( Heininger, JA; Lin, YY; Matsubara, Y, 1984) |
| "We describe a method of screening for dihydropteridine reductase deficiency and dihydrobiopterin synthesis deficiency--the two inherited defects that cause tetrahydrobiopterin deficiency--using blood spots on Guthrie cards." | 1.27 | Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants. ( Barford, PA; Blair, JA; Leeming, RJ; Smith, I, 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) |
| "Five patients with torsion dystonia had normal biopterin concentrations." | 1.27 | Neurological aspects of biopterin metabolism. ( Cavanagh, NP; Hyland, K; Leeming, RJ; Smith, I, 1986) |
| "Results of screening for tetrahydrobiopterin deficiency in 228 cases with hyperphenylalaninemia, including 140 newborns, are reported." | 1.26 | Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man. ( Curtius, HC; Leupold, D; Niederwieser, A; Wang, M, 1982) |
| "Hyperphenylalaninemia due to dihydropteridine reductase deficiency results from the inability to maintain the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in its reduced or active form." | 1.26 | Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine. ( Kaufman, S; Milstien, S; Summer, GK, 1980) |
| "A child diagnosed as having transient phenylketonuria was found to have reduced synthesis of tetrahydrobiopterin and an abnormal clearance of phenylalanine, but he remained clinically normal when on a normal diet." | 1.26 | Biopterin defect in a normal-appearing child affected by a transient phenylketonuria. ( Blair, JA; Leeming, RJ; Rey, F; Rey, J, 1980) |
| "A patient with atypical phenylketonuria and normal liver dihydropteridine reductase and phenylalanine-4-hydroxylase activities excreted neopterin but not biopterin or dihydrobiopterin in urine." | 1.26 | Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency. ( Bettoni, O; Bieri, J; Curtius, HC; Niederwieser, A; Schaub, J; Schircks, B; Viscontini, M, 1979) |
| "A patient with atypical phenylketonuria (defective BH2 synthesis), detected at age 6 months because of severe muscle hypotonia and serum phenylalanine of 20 mg/100 ml, had normal activities of phenylalanine-4-hydroxylase and DHPR in liver biopsy, but only 2% activity in the phenylalanine-4-hyroxylase in vivo test using deuterated phenylalanine." | 1.26 | Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis. ( Bartholomé, K; Bieri, JH; Curtius, HC; Däumling, S; Niederwieser, A; Schaub, J; Schircks, B; Viscontini, M, 1978) |
| "A patient with hyperphenylalaninaemia, not due to phenylketonuria, had an abnormal biopterin derivatives response to phenylalanine distinct from that of patients with classical phenylketonuria." | 1.26 | Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan. ( Blair, JA; Green, A; Leeming, RJ; Raine, DN, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 63 (92.65) | 18.7374 |
| 1990's | 3 (4.41) | 18.2507 |
| 2000's | 1 (1.47) | 29.6817 |
| 2010's | 1 (1.47) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Cañada-Cañada, F | 1 |
| Espinosa-Mansilla, A | 1 |
| Muñoz de la Peña, A | 1 |
| Mancha de Llanos, A | 1 |
| Dhondt, JL | 11 |
| MULLER, R | 1 |
| KNAPP, A | 2 |
| Leeming, RJ | 8 |
| Kaufman, S | 8 |
| Kapatos, G | 2 |
| Rizzo, WB | 2 |
| Schulman, JD | 3 |
| Tamarkin, L | 1 |
| Van Loon, GR | 1 |
| Curtius, HC | 9 |
| Niederwieser, A | 12 |
| Harpey, JP | 1 |
| Rey, F | 5 |
| Saudubray, JM | 1 |
| Rey, J | 2 |
| Beck, B | 2 |
| Brandt, NJ | 1 |
| Christensen, E | 1 |
| Pedersen, PS | 1 |
| Lipson, A | 1 |
| Yu, J | 1 |
| O'Halloran, M | 1 |
| Potter, M | 1 |
| Wilken, B | 1 |
| Kuster, T | 1 |
| Matasović, A | 1 |
| Matsubara, Y | 1 |
| Heininger, JA | 1 |
| Lin, YY | 1 |
| Levine, R | 1 |
| Müldner, H | 1 |
| Barford, PA | 1 |
| Blair, JA | 4 |
| Smith, I | 7 |
| Matalon, R | 1 |
| Endres, W | 1 |
| Wang, M | 2 |
| Ohrt, B | 1 |
| Schaub, J | 3 |
| Farriaux, JP | 6 |
| Largilliere, C | 3 |
| Dautrevaux, M | 2 |
| Ardouin, P | 3 |
| Sanford, YM | 1 |
| Orias, E | 1 |
| Tada, K | 1 |
| Narisawa, K | 2 |
| Leupold, D | 2 |
| McInnes, RR | 1 |
| Bellhasene, Z | 1 |
| Bonneterre, J | 1 |
| Westwood, A | 1 |
| Barr, DG | 1 |
| Tanaka, T | 1 |
| Aihara, K | 1 |
| Iwai, K | 1 |
| Kohashi, M | 1 |
| Tomita, K | 1 |
| Arai, N | 1 |
| Yoshida, H | 1 |
| Usui, T | 1 |
| Hayte, JM | 1 |
| Danks, DM | 4 |
| Cotton, RG | 3 |
| Milstien, S | 3 |
| Summer, GK | 2 |
| Berlow, S | 2 |
| O'Brien, D | 1 |
| Nixon, JC | 1 |
| Lee, CL | 1 |
| Bartholomé, K | 3 |
| Komada, S | 1 |
| Masuzugawa, S | 1 |
| Taniguchi, A | 1 |
| Narita, Y | 1 |
| Kuzuhara, S | 1 |
| Larnaout, A | 1 |
| Belal, S | 1 |
| Miladi, N | 1 |
| Kaabachi, N | 1 |
| Mebazza, A | 1 |
| Hentati, F | 1 |
| Schlesinger, P | 1 |
| Bettoni, O | 1 |
| Bieri, J | 1 |
| Schircks, B | 2 |
| Viscontini, M | 2 |
| Clayton, BE | 1 |
| Curtius, H | 1 |
| Gröbe, H | 1 |
| Leeming, R | 1 |
| Pfleiderer, W | 1 |
| Rembold, H | 1 |
| Orloff, S | 1 |
| Spielberg, S | 1 |
| Pueschel, S | 1 |
| Däumling, S | 1 |
| Bieri, JH | 1 |
| Green, A | 1 |
| Raine, DN | 1 |
| Grimm, U | 1 |
| Schlenzka, K | 1 |
| Reddemann, H | 1 |
| Nichol, CA | 1 |
| Smith, GK | 1 |
| Duch, DS | 1 |
| Leimbacher, W | 1 |
| Ponzone, A | 2 |
| Howells, DW | 1 |
| Hyland, K | 4 |
| Naylor, EW | 1 |
| Ennis, D | 1 |
| Davidson, AG | 1 |
| Wong, LT | 1 |
| Applegarth, DA | 1 |
| Cohen, BE | 1 |
| Szeinberg, A | 1 |
| Quint, J | 1 |
| Normand, M | 1 |
| Blonder, J | 1 |
| Peled, I | 1 |
| Kendall, B | 1 |
| Howells, D | 1 |
| Leonard, J | 1 |
| Cavanagh, NP | 1 |
| Clemens, P | 1 |
| Grüttner, R | 1 |
| Frézal, J | 1 |
| Brase, DA | 1 |
| Westfall, TC | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Pilot Study to Evaluate Melatonin Secretion as a Marker of Decreased Serotonin in Individuals With PKU: Evaluation of the CNS Effects of Tetrahydrobiopterin[NCT01617070] | Phase 4 | 10 participants (Actual) | Interventional | 2012-05-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Evaluated for each subject under 4 conditions (washout, LNAA only, Kuvan only and LNAA+Kuvan) (NCT01617070)
Timeframe: measured every 4 weeks up to 16 weeks
| Intervention | pg/ml (Mean) |
|---|---|
| LNAA | 266.9 |
| Washout | 205.7 |
| BH4 (Kuvan) | 220.4 |
| BH4 and LNAA | 301.2 |
Evaluated for each subject under 4 conditions (washout, LNAA only, Kuvan only and LNAA+Kuvan) (NCT01617070)
Timeframe: measured every 4 weeks up to 16 weeks
| Intervention | ng/mg Creatinine (Mean) |
|---|---|
| LNAA | 14.5 |
| Washout | 8.2 |
| BH4 (Kuvan) | 8.6 |
| BH4 and LNAA | 13.2 |
Evaluated for each subject under 4 conditions (washout, LNAA only, Kuvan only and LNAA+Kuvan) (NCT01617070)
Timeframe: measured every 4 weeks up to 16 weeks
| Intervention | ug/gCreatinine (Mean) |
|---|---|
| LNAA | 63.7 |
| Washout | 42.6 |
| BH4 (Kuvan) | 46.0 |
| BH4 and LNAA | 67.6 |
6 reviews available for pteridines and Phenylketonurias
| Article | Year |
|---|---|
The role of tetrahydrobiopterin in neurological disease: a review.
Topics: Aluminum; Biopterins; Brain; Dementia; Humans; Lead Poisoning; Nervous System Diseases; Neurotransmi | 1981 |
Tetrahydrobiopterin deficiencies: preliminary analysis from an international survey.
Topics: Adjuvants, Pharmaceutic; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Biopterins; | 1984 |
[Tetrahydroblopterin. Metabolism and metabolic role of unconjugated pteridines (author's transl)].
Topics: Animals; Biological Transport; Biopterins; Cattle; Humans; Mice; Mixed Function Oxygenases; Neoplasm | 1980 |
[Biogenic amines and hyperphenylalaninemia (author's transl)].
Topics: Biogenic Amines; Biopterins; Dihydropteridine Reductase; Humans; Infant; Mass Screening; Phenylalani | 1981 |
Biosynthesis and metabolism of tetrahydrobiopterin and molybdopterin.
Topics: Alcohol Oxidoreductases; Animals; Biopterins; Body Fluids; Coenzymes; GTP Cyclohydrolase; Humans; Im | 1985 |
Pteridines and mono-amines: relevance to neurological damage.
Topics: Amines; Biopterins; Folic Acid; Humans; Nervous System; Phenylalanine; Phenylalanine Hydroxylase; Ph | 1986 |
1 trial available for pteridines and Phenylketonurias
| Article | Year |
|---|---|
Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Clinical Trials as Topic; Humans; Infant; Levodopa; Male | 1982 |
61 other studies available for pteridines and Phenylketonurias
| Article | Year |
|---|---|
Determination of marker pteridins and biopterin reduced forms, tetrahydrobiopterin and dihydrobiopterin, in human urine, using a post-column photoinduced fluorescence liquid chromatographic derivatization method.
Topics: Adult; Biomarkers; Biopterins; Child; Chromatography, High Pressure Liquid; Female; Fluorescent Dyes | 2009 |
Lessons from 30 years of selective screening for tetrahydrobiopterin deficiency.
Topics: Biomarkers; Biopterins; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Infant | 2010 |
[On the induction of phenylketonuria in rats and its influencing by folic acid and other pteridine derivatives].
Topics: Animals; Folic Acid; Phenylketonurias; Pteridines; Pterins; Rats | 1963 |
Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin.
Topics: Biopterins; Blood Glucose; Child; Dose-Response Relationship, Drug; Growth Hormone; Humans; Male; Ne | 1983 |
[Development of the biosynthesis and excretion of pterins in phenylketonuria and its variants].
Topics: Alcohol Oxidoreductases; Biopterins; Child; Chromatography, High Pressure Liquid; Humans; Phenylalan | 1983 |
[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
Topics: Alcohol Oxidoreductases; Biopsy, Needle; Biopterins; Child; Child, Preschool; Humans; Infant; Infant | 1983 |
[Partial deficiency of tetrahydrobiopterin].
Topics: Adolescent; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Female; Humans; Infant, Ne | 1983 |
Diagnostic and therapeutic aspects of dihydrobiopterin deficiency.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Chromatography, High Pressure Liquid; Dihydroxyphenylala | 1983 |
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Topics: Biopterins; Female; Fibroblasts; Humans; Infant; Lymphocytes; NADH, NADPH Oxidoreductases; Phenylala | 1984 |
Application of gas chromatography-mass spectrometry to the study of biopterin metabolism in man. Detection of biolumazine and 2'-deoxysepialumazine.
Topics: Biopterins; Chromatography, High Pressure Liquid; Feces; Gas Chromatography-Mass Spectrometry; Human | 1984 |
[Hyperphenylalaninemia on account of biopterin deficiency. The phenylalanine hydroxylase complex and presentation of a patient with cofactor deficiency].
Topics: Biopterins; Humans; Infant; Male; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines | 1983 |
Improved diagnosis of classical vs atypical phenylketonuria by liquid chromatography.
Topics: Biopterins; Chromatography, Liquid; Creatinine; Humans; Infant; Neopterin; Phenylketonurias; Pteridi | 1984 |
Therapeutic efficacy of tetrahydrobiopterin in Parkinson's disease.
Topics: Aged; Antidepressive Agents; Antiparkinson Agents; Biopterins; Brain; Depressive Disorder; Drug Eval | 1984 |
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Dihydropteridine Reductase; Humans; Infant, | 1984 |
Current status of biopterin screening.
Topics: Biopterins; Chromatography, High Pressure Liquid; Humans; Infant; Infant, Newborn; Mass Screening; N | 1984 |
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
Topics: Adult; Alcohol Oxidoreductases; Biopterins; Child; Child, Preschool; Chromatography, High Pressure L | 1981 |
Phenylketonuric Tetrahymena: phenylalanine hydroxylase mutants and other tyrosine auxotrophs.
Topics: Animals; Disease Models, Animal; Humans; Mutation; Phenylalanine Hydroxylase; Phenylketonurias; Pter | 1981 |
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 |
Atypical phenylketonuria with defective biopterin metabolism. Monotherapy with tetrahydrobiopterin or sepiapterin, screening and study of biosynthesis in man.
Topics: Biopterins; Child, Preschool; Female; Humans; Neopterin; Phenylalanine; Phenylketonurias; Pteridines | 1982 |
Use of tetrahydropterins in the treatment of hyperphenylalaninemia due to defective synthesis of tetrahydrobiopterin: evidence that peripherally administered tetrahydropterins enter the brain.
Topics: Biopterins; Brain; Child; Child, Preschool; Female; Humans; Male; Neopterin; Phenylalanine; Phenylke | 1982 |
[Normal and pathologic metabolism of pteridines in man].
Topics: Adolescent; Adult; Breast Neoplasms; Child; Child, Preschool; Female; Humans; Infant; Infant, Newbor | 1982 |
Phenylketonuria with a progressive neurological disorder not responsive to tetrahydrobiopterin.
Topics: Biopterins; Female; Humans; Infant; Nerve Degeneration; Phenylketonurias; Pteridines | 1982 |
Hyperphenylalaninemia due to impaired dihydrobiopterin biosynthesis.
Topics: Benserazide; Biopterins; Humans; Infant; Male; Phenylketonurias; Pteridines | 1981 |
Developmental aspects of pteridine metabolism and relationships with phenylalanine metabolism.
Topics: Adolescent; Adult; Aging; Amniotic Fluid; Animals; Biopterins; Child; Child, Preschool; Female; Huma | 1981 |
[Hyperphenylalaninemia in 1981. A diagnostic approach (author's transl)].
Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Clinical Enzyme Tests; Diagnosis, Differenti | 1981 |
Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia).
Topics: Biopterins; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Topics: Adult; Biopterins; Child; Diagnosis, Differential; Humans; Methods; NADH, NADPH Oxidoreductases; Phe | 1980 |
Progress in phenylketonuria: defects in the metabolism of biopterin.
Topics: Biopterins; Child; Humans; Infant; Infant, Newborn; Phenylalanine; Phenylketonurias; Pteridines | 1980 |
Atypical phenylketonuria due to dihydrobiopterin synthetase deficiency.
Topics: Biopterins; Female; Humans; Infant; Pedigree; Phenylketonurias; Pteridines | 1980 |
Screening for biopterin disorders in PKU.
Topics: Biopterins; Humans; Phenylketonurias; Pteridines | 1980 |
Biopterin defect in a normal-appearing child affected by a transient phenylketonuria.
Topics: Biopterins; Child, Preschool; Diagnosis, Differential; Humans; Infant; Male; Phenylalanine; Phenylke | 1980 |
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 |
[A case report of mild from of phenylketonuria].
Topics: Adult; Biomarkers; Humans; Intellectual Disability; Male; Phenylalanine; Phenylketonurias; Pteridine | 1996 |
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Topics: Adult; Age of Onset; Child; Consanguinity; Disease Progression; Follow-Up Studies; Humans; Male; Met | 1998 |
Letter: Tetrahydrobiopterin treatment of variant form of phenylketonuria.
Topics: Administration, Oral; Biopterins; Female; Humans; Infant; Injections, Intravenous; Phenylalanine; Ph | 1975 |
Letter: Biopterin derivatives in atypical phenylketonuria.
Topics: Biopterins; Child, Preschool; Female; Humans; Phenylketonurias; Pteridines | 1976 |
Additional rescue from methotrexate toxicity?
Topics: Biopterins; Brain; Child, Preschool; Dihydropteridine Reductase; Enzyme Inhibitors; Folic Acid Antag | 1978 |
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
Topics: Alcohol Oxidoreductases; Biopterins; Child, Preschool; Female; Guanosine Triphosphate; Humans; Pheny | 1979 |
Pteridines and phenylketonuria: report of a workshop.
Topics: Humans; Phenylketonurias; Pteridines | 1978 |
Pteridines and phenylketonuria: report of a workshop: Introductory comments.
Topics: Humans; Phenylketonurias; Pteridines | 1978 |
Malignant hyperphenylalaninaemia--current status (June 1977).
Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Infant; Infant, Newborn; Male; Phenylalanine; | 1978 |
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Topics: Biopterins; Child; Dihydropteridine Reductase; Humans; Liver; Phenylalanine Hydroxylase; Phenylketon | 1979 |
Hyperphenylalaninemia due to a deficiency of biopterin. A variant form of phenylketonuria.
Topics: Administration, Oral; Biopterins; Child, Preschool; Dihydropteridine Reductase; Humans; Infant; Live | 1978 |
Establishment of tetrahydrobiopterin as the hydroxylase cofactor and a review of some recent studies in man.
Topics: Biopterins; Coenzymes; Humans; Infant; Liver; Mixed Function Oxygenases; Phenylketonurias; Pteridine | 1978 |
Tetrahydrobiopterin therapy of atypical phenylketonuria due to defective dihydrobiopterin biosynthesis.
Topics: Biopterins; Female; Humans; Infant; Phenylalanine; Phenylketonurias; Pteridines | 1978 |
Protein deficiency in PKU.
Topics: Adult; Biopterins; Child; Humans; Liver; Phenylalanine; Phenylketonurias; Pteridines | 1979 |
Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan.
Topics: Administration, Oral; Adolescent; Adult; Biopterins; Child, Preschool; Chromatography, Thin Layer; H | 1976 |
[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 |
Strategy for the screening of tetrahydrobiopterin deficiency among hyperphenylalaninaemic patients: 15-years experience.
Topics: Belgium; Biopterins; Czechoslovakia; Diagnosis, Differential; Dihydropteridine Reductase; France; Hu | 1991 |
Birthweight in patients with defective biopterin metabolism.
Topics: Biopterins; Birth Weight; Humans; Infant; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Ph | 1985 |
Atypical phenylketonuria with "dihydrobiopterin synthetase" deficiency: absence of phosphate-eliminating enzyme activity demonstrated in liver.
Topics: Adult; Alcohol Oxidoreductases; Biopterins; Chemical Phenomena; Chemistry; Child; Child, Preschool; | 1985 |
Guanosine triphosphate cyclohydrolase I deficiency: early diagnosis by routine urine pteridine screening.
Topics: Aminohydrolases; Biopterins; Chromatography, High Pressure Liquid; Diagnosis, Differential; GTP Cycl | 1987 |
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin.
Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Drug Combinations; Female; Humans; Infant, Newborn; Levo | 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 |
Tetrahydrobiopterin in dihydropteridine reductase deficiency.
Topics: Biopterins; Humans; NADH, NADPH Oxidoreductases; Phenylalanine Hydroxylase; Phenylketonurias; Pterid | 1986 |
Neurological aspects of biopterin metabolism.
Topics: Adolescent; Biological Assay; Biopterins; Child; Child, Preschool; Dystonia Musculorum Deformans; Hu | 1986 |
Transient defect in the synthesis of biopterin.
Topics: Biopterins; Female; Humans; Infant, Newborn; Phenylketonurias; Pteridines | 1985 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Mapl | 1972 |
Stimulation of rat liver phenylalanine hydroxylase activity by derivatives of vitamin E.
Topics: Animals; Carbon Isotopes; Centrifugation; Humans; Kinetics; Liver; Male; Mixed Function Oxygenases; | 1972 |