adenine has been researched along with Inborn Errors of Metabolism in 34 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 65-year-old male." | 8.02 | [A Case Report of 2,8-Dihydroxyadenine Urolithiasis]. ( Horiuchi, E; Imamura, T; Miyachi, S, 2021) |
| "We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones." | 7.96 | Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. ( Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA, 2020) |
| "2,8-Dihydroxyadenine (2,8-DHA) urolithiasis in people is caused by autosomal recessive mutations in the adenine phosphoribosyltransferase gene (APRT)." | 7.80 | An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. ( Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ, 2014) |
| "We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 65-year-old male." | 4.02 | [A Case Report of 2,8-Dihydroxyadenine Urolithiasis]. ( Horiuchi, E; Imamura, T; Miyachi, S, 2021) |
| "We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones." | 3.96 | Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. ( Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA, 2020) |
| "Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD)." | 3.91 | Long-term renal outcomes of APRT deficiency presenting in childhood. ( Agustsdottir, IM; Edvardsson, VO; Indridason, OS; Palsson, R; Runolfsdottir, HL, 2019) |
| "Adenine phosphoribosyltransferase (APRT) deficiency is a rare, but significant, cause of kidney stones and progressive chronic kidney disease." | 3.88 | Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial. ( Edvardsson, VO; Eiriksson, F; Goldfarb, DS; Oddsdottir, GS; Palsson, R; Runolfsdottir, HL; Sch Agustsdottir, IM; Thorsteinsdottir, M; Thorsteinsdottir, UA, 2018) |
| "2,8-Dihydroxyadenine (2,8-DHA) urolithiasis in people is caused by autosomal recessive mutations in the adenine phosphoribosyltransferase gene (APRT)." | 3.80 | An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. ( Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ, 2014) |
| "Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy." | 3.80 | Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( Hemmilä, U; Kaartinen, K; Kouri, T; Mäkelä, S; Räisänen-Sokolowski, A; Salmela, K, 2014) |
| "Activity of hypoxanthine-guanine and adenine phosphoribosyl transferase enzymes has been assayed in erythrocytes from 10 normal adults, 37 subjects with gout, and 21 mentally retarded children with high and normal urinary uric acid:creatinine ratios." | 3.65 | Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation. ( Davison, AN; Eyre, C; Scott, JT, 1971) |
| " After a genetic diagnosis, febuxostat treatment was started on postoperative day 7, with the dosage gradually increased to 80 mg/day until complete the disappearance of 2,8-DHA crystals." | 1.46 | Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. ( Kimura, T; Kurosawa, A; Nanmoku, K; Shimizu, T; Shinzato, T; Yagisawa, T, 2017) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 12 (35.29) | 18.7374 |
| 1990's | 1 (2.94) | 18.2507 |
| 2000's | 4 (11.76) | 29.6817 |
| 2010's | 14 (41.18) | 24.3611 |
| 2020's | 3 (8.82) | 2.80 |
| Authors | Studies |
|---|---|
| Miyachi, S | 1 |
| Imamura, T | 1 |
| Horiuchi, E | 1 |
| Bagai, S | 1 |
| Khullar, D | 1 |
| Bansal, B | 1 |
| Klinkhammer, BM | 1 |
| Djudjaj, S | 1 |
| Kunter, U | 1 |
| Palsson, R | 5 |
| Edvardsson, VO | 5 |
| Wiech, T | 1 |
| Thorsteinsdottir, M | 3 |
| Hardarson, S | 1 |
| Foresto-Neto, O | 1 |
| Mulay, SR | 1 |
| Moeller, MJ | 1 |
| Jahnen-Dechent, W | 1 |
| Floege, J | 1 |
| Anders, HJ | 1 |
| Boor, P | 1 |
| Runolfsdottir, HL | 4 |
| Lin, TL | 1 |
| Goldfarb, DS | 2 |
| Sayer, JA | 1 |
| Michael, M | 1 |
| Ketteridge, D | 1 |
| Rich, PR | 1 |
| Nanmoku, K | 1 |
| Kurosawa, A | 1 |
| Shinzato, T | 1 |
| Shimizu, T | 1 |
| Kimura, T | 1 |
| Yagisawa, T | 1 |
| Thorsteinsdottir, UA | 2 |
| Sch Agustsdottir, IM | 1 |
| Oddsdottir, GS | 1 |
| Eiriksson, F | 1 |
| Oomatia, A | 1 |
| Dupont, P | 1 |
| Bass, P | 1 |
| Moochhala, S | 1 |
| Agustsdottir, IM | 2 |
| Indridason, OS | 1 |
| Laor, D | 1 |
| Sade, D | 1 |
| Shaham-Niv, S | 1 |
| Zaguri, D | 1 |
| Gartner, M | 1 |
| Basavalingappa, V | 1 |
| Raveh, A | 1 |
| Pichinuk, E | 1 |
| Engel, H | 1 |
| Iwasaki, K | 1 |
| Yamamoto, T | 1 |
| Noothalapati, H | 1 |
| Gazit, E | 1 |
| Lau, NKC | 1 |
| Ng, SKW | 1 |
| Chan, IHS | 1 |
| Ng, KS | 1 |
| Kwok, JSS | 1 |
| Furrow, E | 1 |
| Pfeifer, RJ | 1 |
| Osborne, CA | 1 |
| Lulich, JP | 1 |
| Kaartinen, K | 1 |
| Hemmilä, U | 1 |
| Salmela, K | 1 |
| Räisänen-Sokolowski, A | 1 |
| Kouri, T | 1 |
| Mäkelä, S | 1 |
| Yamaguchi, S | 1 |
| Haba, T | 1 |
| Koike, H | 1 |
| George, SA | 1 |
| Al-Rushaidan, S | 1 |
| Francis, I | 1 |
| Soonowala, D | 1 |
| Nampoory, MRN | 1 |
| Eiriksson, FF | 1 |
| Oddsdottir, S | 1 |
| Sigurdsson, BB | 1 |
| Hardarson, HK | 1 |
| Kamble, NR | 1 |
| Sigurdsson, ST | 1 |
| Hu, R | 2 |
| Buck, NE | 2 |
| Khaniani, MS | 1 |
| Wood, L | 2 |
| Wardan, H | 1 |
| Benoist, JF | 1 |
| Li, L | 1 |
| Vadolas, J | 1 |
| Sarsero, JP | 1 |
| Ioannou, PA | 1 |
| Peters, HL | 2 |
| Nozue, H | 1 |
| Kamoda, T | 1 |
| Saitoh, H | 1 |
| Ichikawa, K | 1 |
| Taniguchi, A | 1 |
| Bollée, G | 1 |
| Harambat, J | 1 |
| Bensman, A | 1 |
| Knebelmann, B | 1 |
| Daudon, M | 1 |
| Ceballos-Picot, I | 1 |
| AYVAZIAN, JH | 1 |
| SKUPP, S | 1 |
| Lehotay, DC | 1 |
| LePage, J | 1 |
| Thompson, JR | 1 |
| Rockman-Greenberg, C | 1 |
| Witten, FR | 1 |
| Morgan, JW | 1 |
| Foster, JG | 1 |
| Glenn, JF | 1 |
| Koyama, S | 1 |
| Toyoura, T | 1 |
| Saisho, S | 1 |
| Shimozawa, K | 1 |
| Yata, J | 1 |
| Yokota, I | 1 |
| Coates, PM | 1 |
| Hale, DE | 1 |
| Rinaldo, P | 1 |
| Tanaka, K | 1 |
| Coupris, L | 1 |
| Champion, G | 1 |
| Duverne, C | 1 |
| Varlet, F | 1 |
| Ratajczak, A | 1 |
| Itiaba, K | 1 |
| Banfalvi, M | 1 |
| Crawhall, JC | 1 |
| Fox, IH | 1 |
| Meade, JC | 1 |
| Kelley, WN | 2 |
| Bakay, B | 1 |
| Nyhan, WL | 2 |
| Fawcett, N | 1 |
| Kogut, MD | 1 |
| van der Zee, SP | 1 |
| Lommen, EJ | 1 |
| Trijbels, JM | 1 |
| Schretlen, ED | 1 |
| Frost, P | 1 |
| Weinstein, GD | 1 |
| Eyre, C | 1 |
| Davison, AN | 1 |
| Scott, JT | 1 |
| Waller, HD | 1 |
| Rosenbloom, FM | 1 |
| Miller, J | 1 |
| Seegmiller, JE | 1 |
| Berman, PH | 1 |
| Balis, ME | 1 |
| Dancis, J | 1 |
2 reviews available for adenine and Inborn Errors of Metabolism
| Article | Year |
|---|---|
[A Case Report of 2,8-Dihydroxyadenine Stone].
Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Metabolism, Inborn Errors; Middle Aged; | 2015 |
Adenine phosphoribosyltransferase deficiency.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Animals; Biomarkers; Disease Progression; E | 2012 |
32 other studies available for adenine and Inborn Errors of Metabolism
| Article | Year |
|---|---|
[A Case Report of 2,8-Dihydroxyadenine Urolithiasis].
Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Humans; Kidney Calculi; Lithotripsy; Male; Metabol | 2021 |
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Antimetabolites; Biopsy; Crystalliza | 2019 |
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Animals; Cohort Studies; Diet; Disease Models, An | 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; Huma | 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 Tra | 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 Inh | 2018 |
The Case | Shining a light on an unusual case of chronic kidney disease.
Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Biopsy; Crystallization; Humans; Kidney; Male; Met | 2018 |
Long-term renal outcomes of APRT deficiency presenting in childhood.
Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Allopurinol; Chi | 2019 |
Fibril formation and therapeutic targeting of amyloid-like structures in a yeast model of adenine accumulation.
Topics: Adenine; Amyloid; Metabolism, Inborn Errors; Saccharomyces cerevisiae | 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; | 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; Ho | 2014 |
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
Topics: Adenine; Adenine Phosphoribosyltransferase; Allografts; Humans; Kidney Calculi; Kidney Transplantati | 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 Inhibitor | 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; Lim | 2016 |
Gene induction for the treatment of methylmalonic aciduria.
Topics: Adenine; Cisplatin; Drug Evaluation, Preclinical; Gene Expression Regulation; Green Fluorescent Prot | 2009 |
Stop codon read-through of a methylmalonic aciduria mutation.
Topics: Adenine; Chromosomes, Artificial, Bacterial; Cisplatin; Codon, Terminator; Genes, Reporter; Gentamic | 2009 |
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; Mal | 2011 |
THE STUDY OF PURINE UTILIZATION AND EXCRETION IN A XANTHINURIC MAN.
Topics: Adenine; Carbon Isotopes; Chromatography; Guanine; Humans; Hypoxanthines; Male; Metabolism, Inborn E | 1965 |
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Topics: Acyl-CoA Dehydrogenase; Adenine; Carnitine; Diagnosis, Differential; Gene Frequency; Genotype; Guani | 2004 |
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; Ma | 1983 |
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21.
Topics: Adenine; Adrenal Hyperplasia, Congenital; Asian People; Base Sequence; Codon; Female; Gene Deletion; | 2002 |
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adenine; Alleles; Base Sequence; Biological Evoluti | 1992 |
[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 Er | 1989 |
Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts.
Topics: Adenine; Adenosine Monophosphate; Age Factors; Carbon Isotopes; Cells, Cultured; Chromatography, Pap | 1973 |
Adenine phosphoribosyltransferase deficiency in man. Report of a second family.
Topics: Adenine; Adenosine Triphosphate; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eryt | 1973 |
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.
Topics: Adenine; Blood Protein Electrophoresis; Carbon Isotopes; Electrophoresis, Disc; Erythrocytes; Female | 1972 |
The influence of adenine on the clinical features and purine metabolism in the Lesch-Nyhan syndrome.
Topics: Adenine; Allopurinol; Athetosis; Bone Marrow; Carbon Isotopes; Child; Child, Preschool; Chorea; Comp | 1970 |
Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens.
Topics: Adenine; Adolescent; Adult; Aged; Child; Clinical Enzyme Tests; Erythrocytes; Female; Fibroblasts; G | 1970 |
Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation.
Topics: Adenine; Adolescent; Adult; Child; Child, Preschool; Creatinine; Erythrocytes; Female; Gout; Guanine | 1971 |
[Congenital enzyme defects as a cause of blood disorders].
Topics: Adenine; Anemia, Hemolytic; Anemia, Hemolytic, Congenital; Anemia, Hypochromic; Anemia, Macrocytic; | 1971 |
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adenine; Adolescent; Adult; Aged; Allopurinol; Child; Creatinine; Glucosyltransferases; Gout; Guanin | 1968 |
Congenital hyperuricemia. An inborn error of purine metabolism associated with psychomotor retardation, athetosis, and self-mutilation.
Topics: Adenine; Allopurinol; Athetosis; Child, Preschool; Diet Therapy; Genes, Recessive; Humans; Male; Met | 1969 |