adenine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 54 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive aggressive behavior is associated with a loss of an enzyme that participates in purine metabolism, namely, hypoxanthine-guanine phosphoribosyltransferase." | 3.64 | Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. ( Kelley, WN; Rosenbloom, FM; Seegmiller, JE, 1967) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 45 (83.33) | 18.7374 |
| 1990's | 8 (14.81) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (1.85) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Monostori, P | 1 |
| Klinke, G | 1 |
| Hauke, J | 1 |
| Richter, S | 1 |
| Bierau, J | 1 |
| Garbade, SF | 1 |
| Hoffmann, GF | 1 |
| Langhans, CD | 1 |
| Haas, D | 1 |
| Okun, JG | 1 |
| AYVAZIAN, JH | 1 |
| SKUPP, S | 1 |
| Seegmiller, JE | 6 |
| Rosenbloom, FM | 1 |
| Kelley, WN | 5 |
| Thompson, LF | 1 |
| Sahota, A | 2 |
| Webster, DR | 4 |
| Potter, CF | 1 |
| Simmonds, HA | 9 |
| Rodgers, AV | 1 |
| Gibson, T | 1 |
| Emori, T | 1 |
| Nagase, S | 1 |
| Gault, MH | 1 |
| Snedden, W | 1 |
| Dow, D | 1 |
| Churchill, DN | 1 |
| Penney, H | 1 |
| Barratt, TM | 2 |
| Van Acker, KJ | 3 |
| Cameron, JS | 4 |
| Dillon, M | 1 |
| Cartier, P | 3 |
| Hamet, M | 3 |
| Vincens, A | 1 |
| Perignon, JL | 1 |
| Micheli, V | 1 |
| Pescaglini, M | 1 |
| Rocchigiani, M | 1 |
| Sestini, S | 1 |
| Jacomelli, G | 1 |
| Hayek, G | 1 |
| Pompucci, G | 1 |
| Sumi, S | 1 |
| Kidouchi, K | 1 |
| Ohba, S | 1 |
| Wada, Y | 1 |
| Inagaki, K | 1 |
| Muraoka, A | 1 |
| Suehiro, I | 1 |
| Fujii, M | 1 |
| Ueno, H | 1 |
| Hosooka, T | 1 |
| Kida, K | 1 |
| Murakami, K | 1 |
| Taniguchi, A | 1 |
| Yagisawa, T | 1 |
| Toma, H | 1 |
| Safranow, K | 1 |
| Wilson, JM | 1 |
| Mitchell, BS | 1 |
| Daddona, PE | 1 |
| Zoref, E | 2 |
| Sivan, O | 1 |
| Sperling, O | 2 |
| McBurney, A | 1 |
| Potter, C | 1 |
| Pollara, B | 1 |
| Moore, JJ | 1 |
| Pickering, RJ | 1 |
| Gabrielsen, AE | 1 |
| Meuwissen, HJ | 1 |
| Ho, YK | 1 |
| Guthrie, MJ | 1 |
| Clifford, AJ | 1 |
| Ho, CC | 1 |
| Leusmann, DB | 1 |
| Schmidt, G | 1 |
| Fairbanks, LD | 1 |
| Dillon, MJ | 1 |
| Meadow, SR | 1 |
| Trompeter, RS | 1 |
| Lamontagne, AE | 1 |
| Christensen, E | 1 |
| Brandt, NJ | 1 |
| Laxdal, T | 1 |
| Kamatani, N | 2 |
| Sonoda, T | 1 |
| Nishioka, K | 2 |
| Kojima, T | 1 |
| Nishina, T | 1 |
| Kitamura, M | 1 |
| Manyak, MJ | 1 |
| Frensilli, FJ | 1 |
| Miller, HC | 1 |
| Mateos, FA | 1 |
| Puig, JG | 1 |
| Jiménez, ML | 1 |
| Fox, IH | 4 |
| Goday, A | 1 |
| Morris, GS | 1 |
| Noro, T | 1 |
| Kamikawa, A | 1 |
| Samori, T | 1 |
| Kawamura, T | 1 |
| Igawa, F | 1 |
| Seki, K | 1 |
| Ueki, K | 1 |
| Fujimaki, M | 1 |
| Hamburger, J | 1 |
| Boyle, JA | 3 |
| Green, ML | 1 |
| Wood, MH | 1 |
| Fox, RM | 1 |
| Vincent, L | 1 |
| Reye, C | 1 |
| O'Sullivan, WJ | 1 |
| Meade, JC | 1 |
| de Bruyn, CH | 1 |
| Oei, TL | 1 |
| De Vries, A | 1 |
| Auscher, C | 2 |
| Mercier, N | 1 |
| Pasquier, C | 1 |
| Delbarre, F | 2 |
| Amor, B | 1 |
| de Gery, A | 1 |
| Cotton, RG | 1 |
| Camakaris, J | 1 |
| Danks, DM | 1 |
| Sweetman, L | 3 |
| Nyhan, WL | 3 |
| Lommen, EJ | 1 |
| Vogels, GD | 1 |
| van der Zee, SP | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 1 |
| Greene, ML | 1 |
| Felix, JS | 1 |
| DeMars, R | 1 |
| Raivio, KO | 1 |
| Astrin, KH | 1 |
| Schulman, JD | 1 |
| Graf, ML | 1 |
| Jacobsen, CB | 1 |
| Chow, DC | 1 |
| Kawahara, FS | 1 |
| Saunders, T | 1 |
| Sorensen, LB | 1 |
| Wyngaarden, JB | 1 |
| James, JA | 1 |
| Teberg, AJ | 1 |
| Nelson, LG | 1 |
8 reviews available for adenine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Adenosine deaminase deficiency and severe combined immunodeficiency disease.
Topics: Adenine; Adenosine; Adenosine Deaminase; B-Lymphocytes; Cells, Cultured; Cyclic AMP; Humans; Immunol | 1980 |
[Adenine phosphoribosyltransferase (APRT) deficiency].
Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Genotype; Humans; Mutation; Purine-Pyrimidine M | 1998 |
[2,8-Dihydroxyadenine lithiasis].
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Diagnosis, Differential; Homozy | 1998 |
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].
Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Failure, Chronic; Purine-Pyrimidine Metab | 1998 |
2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Diagnosis, Differentia | 1979 |
[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases].
Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Humans; Kidney Calculi; Male; Pedigree; Puri | 1990 |
Overview of possible relation of defects in purine metabolism to immune deficiency.
Topics: Adenine; Adenosine Deaminase; Adenosine Deaminase Inhibitors; Animals; Cells, Cultured; Coformycin; | 1985 |
Phosphoribosylpyrophosphate in man: biochemical and clinical significance.
Topics: Adenine; Adrenocorticotropic Hormone; Allopurinol; Animals; Glycogen; Gout; Humans; Lesch-Nyhan Synd | 1971 |
46 other studies available for adenine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
Topics: Adenine; Adolescent; Adult; Aminoimidazole Carboxamide; Biomarkers; Child; Child, Preschool; Chromat | 2019 |
THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN.
Topics: Adenine; Carbon Isotopes; Chromatography; Guanine; Humans; Hypoxanthines; Male; Metabolism, Inborn E | 1965 |
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Aggression; Athetosis; Azathioprine; Cerebral Palsy | 1967 |
Methylthioadenosine phosphorylase activity in human erythrocytes.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Chromatography, High Pressure Liquid; Erythrocyte | 1983 |
[A problem on the uric acid value of rats for clinical evaluation].
Topics: Adenine; Allantoin; Animals; Humans; Male; Nucleic Acids; Purine-Pyrimidine Metabolism, Inborn Error | 1984 |
Urolithiasis due to 2,8-dihydroxyadenine in an adult.
Topics: Adenine; Adult; Allopurinol; Female; Humans; Kidney Calculi; Kidney Pelvis; Purine-Pyrimidine Metabo | 1981 |
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Creatinine; Female; Humans; Kid | 1980 |
Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings: report of a new case.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Female; Humans; Kidney Ca | 1980 |
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
Topics: Adenine; Carbon Radioisotopes; Child; Erythrocytes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosy | 1994 |
Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
Topics: Adenine; Adenosine; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Orotic Acid; Pseudou | 1995 |
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Alleles; Base Sequence; DNA; Female; Humans; Male | 1998 |
Purinogenic immunodeficiency diseases. Differential effects of deoxyadenosine and deoxyguanosine on DNA synthesis in human T lymphoblasts.
Topics: Adenine; Adenosine Deaminase; Carbon Radioisotopes; Cells, Cultured; Cytotoxicity Tests, Immunologic | 1979 |
Synthesis and metabolic fate of purine nucleotides in cultured fibroblasts from normal subjects and from purine overproducing mutants.
Topics: Adenine; Cells, Cultured; Fibroblasts; Formates; Guanine; Humans; Hypoxanthine Phosphoribosyltransfe | 1978 |
Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Diet; Humans; Male; Oroti | 1977 |
Complete deficiency of adenine phosphoribosyltransferase. Report of a family.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child; Child, Preschool; Crystallization; F | 1977 |
Combined immunodeficiency disease: an inborn error of purine metabolism.
Topics: Adenine; Adenosine Deaminase; Chromosomes, Human, 19-20; Enzyme Inhibitors; Erythrocytes; Humans; Im | 1975 |
Effect of adenine metabolites on survival of Drosophila melanogaster of low xanthine dehydrogenase activity.
Topics: Adenine; Animals; Drosophila melanogaster; Female; Male; Mutation; Purine-Pyrimidine Metabolism, Inb | 1992 |
Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.
Topics: Adenine; Carbon Radioisotopes; Chromatography, High Pressure Liquid; Deoxyadenosines; Erythrocytes; | 1986 |
Purine enzyme defects as a cause of acute renal failure in childhood.
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool | 1989 |
2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Female; Humans; Purine-Pyrimidine Metabolism, Inb | 1989 |
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.
Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Erythrocytes; Female; Gas Chromatograp | 1987 |
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Japan; Pentosyltransferases; Purine-Pyrimidine M | 1988 |
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism.
Topics: Adenine; Allopurinol; Chromatography, High Pressure Liquid; Humans; Hypoxanthine; Hypoxanthines; Ino | 1987 |
2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States.
Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Middle Aged; Pentosyltransferases; Purin | 1987 |
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Female; Fructose; Guanosine; Humans; Hypoxanthine; | 1987 |
EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adenosine Deaminase; Adenosine Deaminase Inhibitors; Cel | 1985 |
[Determination and significance of adenine in the urine and the serum of a patient with congenital adenine phosphoribosyltransferase deficiency].
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Chromatography, High Pressure Liquid; Female; Hum | 1985 |
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].
Topics: Adenine; Adenine Phosphoribosyltransferase; Child, Preschool; Homozygote; Humans; Hypoxanthine Phosp | 1974 |
Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes.
Topics: Adenine; Athetosis; Diphosphates; Erythrocytes; Humans; Hypoxanthines; Intellectual Disability; Lesc | 1971 |
The Lesch-Nyhan syndrome: report of three cases.
Topics: Adenine; Adolescent; Adult; Allopurinol; Athetosis; Australia; Child; Humans; Hypoxanthines; Intelle | 1972 |
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Topics: Adenine; Adenosine Triphosphate; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eryt | 1973 |
Purine metabolism in intact erythrocytes from controls and HG-PRT deficient individuals.
Topics: Adenine; Adenosine; Carbon Radioisotopes; Cell Membrane; Erythrocytes; Guanine; Guanine Nucleotides; | 1973 |
Adenine phosphoribosyltransferase deficiency: report of a second family.
Topics: Adenine; Adenosine Triphosphate; Creatinine; Drug Stability; Erythrocytes; Female; Fibroblasts; Fruc | 1973 |
Stabilization by PRPP of cellular purine phosphoribosyltransferases against inactivation by freezing and thawing. Study of normal and hypoxanthine-guanine phosphoribosyltransferase deficient human fibroblasts.
Topics: Adenine; Animals; Cattle; Drug Stability; Fibroblasts; Freezing; Gout; Guanine Nucleotides; Humans; | 1973 |
Allopurinol and thiopurinol: effect in vivo on urinary oxypurine excretion and rate of synthesis of their ribonucleotides in different enzymatic deficiencies.
Topics: Adenine; Allopurinol; Erythrocytes; Female; Gout; Guanine; Humans; Hypoxanthines; Lesch-Nyhan Syndro | 1974 |
Gout with adenine phosphoribosyl transferase deficiency.
Topics: Adenine; Adolescent; Adult; Aged; Allopurinol; Carbon Radioisotopes; Child; Child, Preschool; Chromo | 1974 |
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12.
Topics: Adenine; Alanine; Aspartic Acid; Biological Assay; Carbamates; Child; Chromatography, Paper; Cytosin | 1970 |
Further studies of the enzyme composition of mutant cells in X-linked uric aciduria.
Topics: Adenine; Athetosis; Erythrocytes; Fibroblasts; Guanine; Humans; Hypoxanthines; Inosine; Intellectual | 1972 |
Concentration of purine nucleotides in erythrocytes of patients with the Lesch-Nyhan syndrome before and during oral administration of adenine.
Topics: Adenine; Athetosis; Chemical Precipitation; Child; Child, Preschool; Erythrocytes; Hematocrit; Human | 1971 |
Detailed comparison of the urinary excretion of purines in a patient with the Lesch-Nyhan syndrome and a control subject.
Topics: Adenine; Adenosine; Athetosis; Child; Chromatography, Gel; Chromatography, Ion Exchange; Formamides; | 1970 |
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout.
Topics: Adenine; Adult; Erythrocytes; Gout; Humans; Hypoxanthines; Lesch-Nyhan Syndrome; Pentosyltransferase | 1971 |
Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency).
Topics: Adenine; Clone Cells; Culture Techniques; Female; Folic Acid; Guanine; Humans; Hypoxanthines; Phenot | 1969 |
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis.
Topics: Adenine; Amniotic Fluid; Athetosis; Autoradiography; Basal Ganglia; Carbon Isotopes; Cerebellum; Cer | 1970 |
A new assay method for hypoxanthine-guanine phosphoribosyltransferase.
Topics: Adenine; Adenine Nucleotides; Athetosis; Carbon Isotopes; Chorea; Chromatography; Compulsive Behavio | 1970 |
Phosphoribosyltransferase (PRT) and adenine PRT (A-PRT) deficiency states in man--new inborn errors of purine metabolism.
Topics: Adenine; Adult; Child, Preschool; Erythrocytes; Female; Heterozygote; Homozygote; Humans; Hyperlipid | 1969 |
A new disorder of purine metabolism with behavioral manifestations.
Topics: Adenine; Allopurinol; Autistic Disorder; Carbon Isotopes; Child Behavior Disorders; Child, Preschool | 1969 |