2,8-dihydroxyadenine has been researched along with Metabolism, Inborn Errors in 17 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (11.76) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 13 (76.47) | 24.3611 |
| 2020's | 2 (11.76) | 2.80 |
| Authors | Studies |
|---|---|
| Bagai, S; Bansal, B; Khullar, D | 1 |
| Anders, HJ; Boor, P; Djudjaj, S; Edvardsson, VO; Floege, J; Foresto-Neto, O; Hardarson, S; Jahnen-Dechent, W; Klinkhammer, BM; Kunter, U; Moeller, MJ; Mulay, SR; Palsson, R; Thorsteinsdottir, M; Wiech, T | 1 |
| Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA | 1 |
| Kimura, T; Kurosawa, A; Nanmoku, K; Shimizu, T; Shinzato, T; Yagisawa, T | 1 |
| Edvardsson, VO; Eiriksson, F; Goldfarb, DS; Oddsdottir, GS; Palsson, R; Runolfsdottir, HL; Sch Agustsdottir, IM; Thorsteinsdottir, M; Thorsteinsdottir, UA | 1 |
| Bass, P; Dupont, P; Moochhala, S; Oomatia, A | 1 |
| Agustsdottir, IM; Edvardsson, VO; Indridason, OS; Palsson, R; Runolfsdottir, HL | 1 |
| Chan, IHS; Kwok, JSS; Lau, NKC; Ng, KS; Ng, SKW | 1 |
| Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ | 1 |
| Hemmilä, U; Kaartinen, K; Kouri, T; Mäkelä, S; Räisänen-Sokolowski, A; Salmela, K | 1 |
| Haba, T; Koike, H; Yamaguchi, S | 1 |
| Al-Rushaidan, S; Francis, I; George, SA; Nampoory, MRN; Soonowala, D | 1 |
| Agustsdottir, IM; Edvardsson, VO; Eiriksson, FF; Hardarson, HK; Kamble, NR; Oddsdottir, S; Palsson, R; Runolfsdottir, HL; Sigurdsson, BB; Sigurdsson, ST; Thorsteinsdottir, M; Thorsteinsdottir, UA | 1 |
| Ichikawa, K; Kamoda, T; Nozue, H; Saitoh, H; Taniguchi, A | 1 |
| Bensman, A; Bollée, G; Ceballos-Picot, I; Daudon, M; Harambat, J; Knebelmann, B | 1 |
| Foster, JG; Glenn, JF; Morgan, JW; Witten, FR | 1 |
| Champion, G; Coupris, L; Duverne, C; Ratajczak, A; Varlet, F | 1 |
2 review(s) available for 2,8-dihydroxyadenine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
[A Case Report of 2,8-Dihydroxyadenine Stone].
Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Metabolism, Inborn Errors; Middle Aged; Spectrophotometry, Infrared; Tomography, X-Ray Computed; Treatment Outcome; Ureteral Calculi; Urolithiasis | 2015 |
Adenine phosphoribosyltransferase deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Animals; Biomarkers; Disease Progression; Enzyme Inhibitors; Genetic Predisposition to Disease; Humans; Kidney Diseases; Metabolism, Inborn Errors; Phenotype; Predictive Value of Tests; Prognosis; Recurrence; Urolithiasis; Xanthine Dehydrogenase | 2012 |
15 other study(ies) available for 2,8-dihydroxyadenine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Antimetabolites; Biopsy; Crystallization; Humans; Hydrotherapy; Kidney Transplantation; Male; Metabolism, Inborn Errors; Primary Graft Dysfunction; Urolithiasis | 2019 |
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Animals; Cohort Studies; Diet; Disease Models, Animal; Female; Humans; Infant; Kidney Diseases; Male; Metabolism, Inborn Errors; Mice; Middle Aged; Urolithiasis | 2020 |
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Child; Child, Preschool; Female; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Middle Aged; Reproducibility of Results; Retrospective Studies; Urolithiasis; Young Adult | 2020 |
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Febuxostat; Gout Suppressants; Humans; Kidney Transplantation; Male; Metabolism, Inborn Errors; Urolithiasis | 2017 |
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Allopurinol; Cross-Over Studies; Enzyme Inhibitors; Febuxostat; Female; Humans; Iceland; Kidney Calculi; Male; Metabolism, Inborn Errors; Middle Aged; Pilot Projects; Registries; Treatment Outcome; Urolithiasis | 2018 |
The Case | Shining a light on an unusual case of chronic kidney disease.
Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Biopsy; Crystallization; Humans; Kidney; Male; Metabolism, Inborn Errors; Microscopy, Polarization; Renal Insufficiency, Chronic; Urolithiasis | 2018 |
Long-term renal outcomes of APRT deficiency presenting in childhood.
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Allopurinol; Child; Child, Preschool; Disease Progression; Female; Follow-Up Studies; Glomerular Filtration Rate; Humans; Infant; Kidney; Kidney Calculi; Male; Metabolism, Inborn Errors; Recurrence; Registries; Renal Insufficiency, Chronic; Urolithiasis; Xanthine Dehydrogenase; Young Adult | 2019 |
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Early Diagnosis; Humans; Kidney; Male; Metabolism, Inborn Errors; Radiography; Urinary Bladder Calculi; Urolithiasis | 2019 |
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Dogs; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Metabolism, Inborn Errors; Mutation, Missense; Urolithiasis | 2014 |
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allografts; Humans; Kidney Calculi; Kidney Transplantation; Male; Metabolism, Inborn Errors; Middle Aged; Risk Factors; Urolithiasis | 2014 |
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Biomarkers; Biopsy; Enzyme Inhibitors; Female; Humans; Kidney Failure, Chronic; Kidney Transplantation; Metabolism, Inborn Errors; Treatment Outcome; Urolithiasis; Xanthine Dehydrogenase | 2017 |
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Chromatography, High Pressure Liquid; Humans; Limit of Detection; Metabolism, Inborn Errors; Tandem Mass Spectrometry; Urinalysis; Urolithiasis | 2016 |
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Humans; Lithotripsy; Male; Metabolism, Inborn Errors; Mutation; Nephritis, Interstitial; Nephrolithiasis; Recurrence; Urinary Tract Infections; Urolithiasis | 2011 |
2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Child; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Pentosyltransferases; Purines; United States; Urinary Calculi | 1983 |
[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy].
Topics: Adenine; Child; Diagnosis, Differential; Humans; Infant; Kidney Calculi; Male; Metabolism, Inborn Errors; Spectrophotometry; Ultrasonography | 1989 |