2,8-dihydroxyadenine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 16 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 9 (56.25) | 18.7374 |
| 1990's | 6 (37.50) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (6.25) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bierau, J; Garbade, SF; Haas, D; Hauke, J; Hoffmann, GF; Klinke, G; Langhans, CD; Monostori, P; Okun, JG; Richter, S | 1 |
| Churchill, DN; Dow, D; Gault, MH; Penney, H; Simmonds, HA; Snedden, W | 1 |
| Barratt, TM; Cameron, JS; Dillon, M; Sahota, A; Simmonds, HA; Van Acker, KJ; Webster, DR | 1 |
| Cartier, P; Hamet, M; Perignon, JL; Vincens, A | 1 |
| Kidouchi, K; Ohba, S; Sumi, S; Wada, Y | 1 |
| Fujii, M; Hosooka, T; Inagaki, K; Kida, K; Murakami, K; Muraoka, A; Suehiro, I; Ueno, H | 1 |
| Taniguchi, A | 1 |
| Toma, H; Yagisawa, T | 1 |
| Safranow, K | 1 |
| Leusmann, DB; Schmidt, G | 1 |
| Barratt, TM; Cameron, JS; Dillon, MJ; Meadow, SR; Simmonds, HA; Trompeter, RS | 1 |
| Lamontagne, AE | 1 |
| Brandt, NJ; Christensen, E; Laxdal, T | 1 |
| Kamatani, N; Nishioka, K; Sonoda, T | 1 |
| Kamatani, N; Kitamura, M; Kojima, T; Nishina, T; Nishioka, K | 1 |
| Frensilli, FJ; Manyak, MJ; Miller, HC | 1 |
4 review(s) available for 2,8-dihydroxyadenine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
[Adenine phosphoribosyltransferase (APRT) deficiency].
Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Genotype; Humans; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors | 1998 |
[2,8-Dihydroxyadenine lithiasis].
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Diagnosis, Differential; Homozygote; Humans; Infant; Middle Aged; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi | 1998 |
[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].
Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Failure, Chronic; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi | 1998 |
[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases].
Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Humans; Kidney Calculi; Male; Pedigree; Purine-Pyrimidine Metabolism, Inborn Errors; X-Ray Diffraction | 1990 |
12 other study(ies) available for 2,8-dihydroxyadenine 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; Chromatography, Liquid; Female; Humans; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Quality Control; Reference Values; Ribonucleotides; Tandem Mass Spectrometry; Urea; Uridine | 2019 |
Urolithiasis due to 2,8-dihydroxyadenine in an adult.
Topics: Adenine; Adult; Allopurinol; Female; Humans; Kidney Calculi; Kidney Pelvis; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Calculi | 1981 |
Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Child, Preschool; Creatinine; Female; Humans; Kidney; Kidney Calculi; Male; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 1980 |
Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings: report of a new case.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child, Preschool; Female; Humans; Kidney Calculi; Male; Pedigree; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Spectrophotometry | 1980 |
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; Pseudouridine; Purine-Pyrimidine Metabolism, Inborn Errors; Uracil; Xanthine; Xanthines | 1995 |
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Alleles; Base Sequence; DNA; Female; Humans; Male; Molecular Sequence Data; Pedigree; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Recurrence; Ureteral Calculi | 1998 |
Purine enzyme defects as a cause of acute renal failure in childhood.
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Child; Child, Preschool; Creatinine; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid | 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, Inborn Errors; United States; Ureteral Calculi | 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 Chromatography-Mass Spectrometry; Humans; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors | 1987 |
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Japan; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Surveys and Questionnaires; Urinary Calculi | 1988 |
Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism.
Topics: Adenine; Allopurinol; Chromatography, High Pressure Liquid; Humans; Hypoxanthine; Hypoxanthines; Inosine; Oxypurinol; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Spectrophotometry, Ultraviolet; Uric Acid; Uridine; Xanthine; Xanthines | 1987 |
2,8-Dihydroxyadenine urolithiasis: report of an adult case in the United States.
Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Middle Aged; Pentosyltransferases; Purine-Pyrimidine Metabolism, Inborn Errors; United States; Urinary Calculi | 1987 |