xanthine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 42 studies
7H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-7 is protonated.
9H-xanthine : An oxopurine in which the purine ring is substituted by oxo groups at positions 2 and 6 and N-9 is protonated.
| Excerpt | Relevance | Reference |
|---|---|---|
| " The findings of raised levels of uric acid in plasma and urine at presentation in the third trimester of pregnancy, and the subsequent fall to almost undetectable levels 6 weeks post-partum, is regarded as evidence of the extent of fetal uric acid production and clearance by the maternal circulation." | 7.67 | Pregnancy in xanthinuria: demonstration of fetal uric acid production? ( Buckley, BM; Fisher, RA; Simmonds, HA; Spencer, RE; Stutchbury, JH; Webster, DR; Wooder, M, 1984) |
| "Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines." | 5.36 | Xanthine urolithiasis. ( Essid, A; Gargah, T; Hamzaoui, M; Labassi, A; Lakhoua, MR, 2010) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 5.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| " The findings of raised levels of uric acid in plasma and urine at presentation in the third trimester of pregnancy, and the subsequent fall to almost undetectable levels 6 weeks post-partum, is regarded as evidence of the extent of fetal uric acid production and clearance by the maternal circulation." | 3.67 | Pregnancy in xanthinuria: demonstration of fetal uric acid production? ( Buckley, BM; Fisher, RA; Simmonds, HA; Spencer, RE; Stutchbury, JH; Webster, DR; Wooder, M, 1984) |
| "Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines." | 1.36 | Xanthine urolithiasis. ( Essid, A; Gargah, T; Hamzaoui, M; Labassi, A; Lakhoua, MR, 2010) |
| "Treatment with allopurinol was associated to a mean reduction of serum urate concentration of 50%, and was normalized in all patients." | 1.33 | Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients. ( Prior, C; Puig, JG; Torres, RJ, 2006) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 10 (23.81) | 18.7374 |
| 1990's | 14 (33.33) | 18.2507 |
| 2000's | 6 (14.29) | 29.6817 |
| 2010's | 9 (21.43) | 24.3611 |
| 2020's | 3 (7.14) | 2.80 |
| Authors | Studies |
|---|---|
| Sedda, D | 1 |
| Mackowiak, C | 1 |
| Pailloux, J | 1 |
| Culerier, E | 1 |
| Dudas, A | 1 |
| Rontani, P | 1 |
| Erard, N | 1 |
| Lefevre, A | 1 |
| Mavel, S | 1 |
| Emond, P | 1 |
| Foucher, F | 1 |
| Le Bert, M | 1 |
| Quesniaux, VFJ | 1 |
| Mihatsch, MJ | 1 |
| Ryffel, B | 1 |
| Erard-Garcia, M | 1 |
| Tanev, D | 1 |
| Peteva, P | 1 |
| Fairbanks, L | 2 |
| Marinaki, A | 1 |
| Ivanova, M | 1 |
| Alaikov, T | 1 |
| Shivarov, V | 1 |
| Biaz, A | 1 |
| Tazi, S | 1 |
| Bouhsain, S | 1 |
| Chemsi, M | 1 |
| Dami, A | 1 |
| Machtani-Idrissi, SE | 1 |
| Sebesta, I | 1 |
| Stiburkova, B | 2 |
| Krijt, J | 2 |
| Pavelcova, K | 1 |
| Petru, L | 1 |
| Grases, F | 1 |
| Costa-Bauza, A | 1 |
| Roig, J | 1 |
| Rodriguez, A | 1 |
| Vail, KJ | 1 |
| Tate, NM | 1 |
| Likavec, T | 1 |
| Minor, KM | 1 |
| Gibbons, PM | 1 |
| Rech, RR | 1 |
| Furrow, E | 1 |
| Zhou, Y | 1 |
| Zhang, X | 1 |
| Ding, R | 1 |
| Li, Z | 1 |
| Hong, Q | 1 |
| Wang, Y | 1 |
| Zheng, W | 1 |
| Geng, X | 1 |
| Fan, M | 1 |
| Cai, G | 1 |
| Chen, X | 1 |
| Wu, D | 1 |
| Gargah, T | 1 |
| Essid, A | 1 |
| Labassi, A | 1 |
| Hamzaoui, M | 1 |
| Lakhoua, MR | 1 |
| Borucka, B | 1 |
| Runowski, D | 1 |
| Safranow, K | 1 |
| Olszewska, M | 1 |
| Jakubowska, K | 1 |
| Chlubek, D | 1 |
| Yakubov, R | 1 |
| Nir, V | 1 |
| Kassem, E | 1 |
| Klein-Kremer, A | 1 |
| Ichida, K | 6 |
| Amaya, Y | 2 |
| Okamoto, K | 1 |
| Nishino, T | 3 |
| Desbois, JC | 1 |
| Cartier, P | 1 |
| Petyst, O | 1 |
| Allaneau, C | 1 |
| Herrault, A | 1 |
| Torres, RJ | 1 |
| Prior, C | 1 |
| Puig, JG | 3 |
| Arikyants, N | 1 |
| Sarkissian, A | 1 |
| Hesse, A | 1 |
| Eggermann, T | 1 |
| Leumann, E | 1 |
| Steinmann, B | 1 |
| Bahlous, A | 1 |
| Gasmi, M | 1 |
| Mohsni, A | 1 |
| Abdelmoula, J | 1 |
| Simmonds, HA | 2 |
| Stutchbury, JH | 1 |
| Webster, DR | 1 |
| Spencer, RE | 1 |
| Fisher, RA | 1 |
| Wooder, M | 1 |
| Buckley, BM | 1 |
| Boulieu, R | 4 |
| Bory, C | 4 |
| Baltassat, P | 1 |
| Divry, P | 1 |
| Nishioka, K | 2 |
| Yamanaka, H | 2 |
| Nishina, T | 3 |
| Hosoya, T | 4 |
| Mikanagi, K | 1 |
| Chantin, C | 3 |
| van Gennip, AH | 1 |
| Mandel, H | 1 |
| Stroomer, LE | 1 |
| van Cruchten, AG | 1 |
| Sumi, S | 2 |
| Kidouchi, K | 1 |
| Ohba, S | 1 |
| Wada, Y | 2 |
| Kamatani, N | 3 |
| Sakai, O | 1 |
| Hughes, EF | 1 |
| Robinson, RO | 1 |
| Saji, M | 1 |
| Okabe, H | 1 |
| Mayaudon, H | 1 |
| Bauduceau, B | 1 |
| Dupuy, O | 1 |
| Ceppa, F | 1 |
| Roul, G | 1 |
| Burnat, P | 1 |
| Kiss, A | 1 |
| Barényi, M | 1 |
| Csontai, A | 1 |
| Sakamoto, N | 1 |
| Yamamoto, T | 2 |
| Moriwaki, Y | 2 |
| Teranishi, T | 1 |
| Toyoda, M | 1 |
| Onishi, Y | 1 |
| Kuroda, S | 1 |
| Sakaguchi, K | 1 |
| Fujisawa, T | 1 |
| Maeda, M | 1 |
| Hada, T | 2 |
| Kojima, T | 2 |
| Takahashi, S | 1 |
| Suda, M | 1 |
| Imanishi, H | 1 |
| Agbedana, OE | 1 |
| Nanahoshi, M | 1 |
| Higashino, K | 1 |
| Fraile Rodríguez, G | 1 |
| Riobo Serván, P | 1 |
| Perales Rodríguez, J | 1 |
| Kitamura, M | 1 |
| Mateos, FA | 2 |
| Ramos, TH | 1 |
| Fox, IH | 2 |
| Carpenter, TO | 1 |
| Lebowitz, RL | 1 |
| Nelson, D | 1 |
| Bauer, S | 1 |
| Jiménez, ML | 1 |
| Bennett, MJ | 1 |
| Carpenter, KH | 1 |
| Hill, PG | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders[NCT04802707] | Phase 2 | 50 participants (Anticipated) | Interventional | 2021-10-18 | Recruiting | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
5 reviews available for xanthine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Topics: Aldehyde Oxidase; Animals; Diagnosis, Differential; Enzyme Activation; Genetic Association Studies; | 2012 |
[Primary underproductive hypouricemia].
Topics: Allopurinol; Coenzymes; Diagnosis, Differential; Humans; Liver Diseases; Metalloproteins; Molybdenum | 2003 |
[Hereditary xanthinuria and molybdenum cofactor deficiency].
Topics: Coenzymes; Genes, Recessive; Humans; Metalloproteins; Molybdenum Cofactors; Mutation; Pteridines; Pu | 2003 |
[Xanthine oxidase deficiency (hereditary xanthinuria), molybdenum cofactor deficiency].
Topics: Central Nervous System Diseases; Coenzymes; Diagnosis, Differential; Diet Therapy; Humans; Infant, N | 1996 |
[Classical xanthinuria (type I and II)].
Topics: Aldehyde Oxidase; Aldehyde Oxidoreductases; Coenzymes; Diagnosis, Differential; Humans; Metalloprote | 1998 |
37 other studies available for xanthine and Purine Pyrimidine Metabolism, Inborn Errors
| Article | Year |
|---|---|
Deletion of
Topics: Animals; Kidney Diseases; Mice; Purine-Pyrimidine Metabolism, Inborn Errors; Urolithiasis; Xanthine; | 2021 |
Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria.
Topics: Aldehyde Oxidase; Antirheumatic Agents; Arthritis, Juvenile; Azathioprine; Bone Marrow Failure Disor | 2020 |
Fortuitous Discovery of Hereditary Xanthinuria.
Topics: Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine | 2020 |
Hereditary xanthinuria is not so rare disorder of purine metabolism.
Topics: Adult; Aldehyde Oxidase; Allopurinol; Child; Child, Preschool; Czech Republic; Diagnosis, Differenti | 2018 |
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
Topics: Adult; Aldehyde Oxidase; Female; Humans; Mercaptopurine; Methyltransferases; Polymorphism, Genetic; | 2018 |
Xanthine urolithiasis: Inhibitors of xanthine crystallization.
Topics: Aldehyde Oxidase; Chemical Precipitation; Crystallization; Down-Regulation; Humans; In Vitro Techniq | 2018 |
Hereditary xanthinuria in a goat.
Topics: Animals; Female; Goat Diseases; Goats; Purine-Pyrimidine Metabolism, Inborn Errors; Sulfurtransferas | 2019 |
Using Next-Generation Sequencing to Identify a Mutation in Human MCSU that is Responsible for Type II Xanthinuria.
Topics: Adult; Aldehyde Oxidase; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation; Purine-Pyrim | 2015 |
Xanthine urolithiasis.
Topics: Abdominal Pain; Biomarkers; Biopsy; Child; Child, Preschool; Hematuria; Humans; Hydronephrosis; Male | 2010 |
[Xanthinuria type I as the cause of nephrolithiasis in 17-years old girl].
Topics: Adolescent; Female; Humans; Nephrolithiasis; Purine-Pyrimidine Metabolism, Inborn Errors; Recurrence | 2010 |
[Asymptomatic classical hereditary xanthinuria type 1].
Topics: Arabs; Asymptomatic Diseases; Child, Preschool; Diet Therapy; Disease Management; Female; Humans; In | 2012 |
[Xanthine-oxidase deficiency (congenital xanthinuria). Family study].
Topics: Child; Diagnosis, Differential; Female; Humans; Hydronephrosis; Male; Pedigree; Purine-Pyrimidine Me | 1977 |
Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.
Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Follow-Up Studies; Humans; Hypoxanthine; Hy | 2006 |
Xanthinuria type I: a rare cause of urolithiasis.
Topics: Armenia; Child; Female; Humans; Infant; Male; Mutation; Purine-Pyrimidine Metabolism, Inborn Errors; | 2007 |
[Recurrent urinary lithiasis revealing hereditary xanthinuria].
Topics: Adult; Calculi; Calorimetry; Child, Preschool; Chromatography, Gas; Female; Humans; Hypoxanthine; Ma | 2007 |
Pregnancy in xanthinuria: demonstration of fetal uric acid production?
Topics: Adult; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Middle Aged; Pregnancy; Pregnancy Complic | 1984 |
Hypoxanthine and xanthine concentrations determined by high performance liquid chromatography in biological fluids from patients with xanthinuria.
Topics: Adult; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Hypoxanthine; Hypoxanthin | 1984 |
Clinicobiochemical analysis of four cases of xanthine oxidase deficiency.
Topics: Adult; Aged; Female; Humans; Male; Middle Aged; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Ac | 1984 |
Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
Topics: Adenine Nucleotides; Allopurinol; Child; Erythrocytes; Female; Guanine Nucleotides; Humans; Hypoxant | 1994 |
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.
Topics: Allopurinol; Coenzymes; Female; Humans; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum | 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 |
Comparison of capillary electrophoretic and liquid chromatographic determination of hypoxanthine and xanthine for the diagnosis of xanthinuria.
Topics: Chromatography, High Pressure Liquid; Electrophoresis, Capillary; Humans; Hypoxanthine; Hypoxanthine | 1996 |
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
Topics: Adult; Aged; Codon; Coenzymes; DNA Primers; Duodenum; Humans; Intestinal Mucosa; Male; Metalloprotei | 1997 |
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
Topics: Age of Onset; Behavioral Symptoms; Brain; Child; Diagnosis, Differential; Family Relations; Female; | 1998 |
Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria.
Topics: Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 2; Codon; Heterozygote; Homozygote; Huma | 1998 |
Capillary electrophoretic analysis of hypoxanthine and xanthine for the diagnosis of xanthinuria.
Topics: Adult; Biomarkers; Electrophoresis, Capillary; Humans; Hypoxanthine; Infant, Newborn; Purine-Pyrimid | 1998 |
[Unmeasurable uric acid in blood and urine; xanthine dehydrogenase deficiency (or hereditary xanthinuria)].
Topics: Adult; Chromosome Mapping; Chromosomes, Human, Pair 2; Female; Humans; Male; Mutation; Purine-Pyrimi | 1999 |
Xanthine stone in the urinary bladder of a male child.
Topics: Child, Preschool; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Urinary Bladder Calculi | 1999 |
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
Topics: Allopurinol; Humans; Hypoxanthine; Male; Middle Aged; Oxypurinol; Point Mutation; Purine-Pyrimidine | 2001 |
[A new method for the determination of xanthine oxidase activity by high-performance liquid chromatography with electrochemical detection].
Topics: Adult; Chromatography, High Pressure Liquid; Female; Humans; Male; Methods; Purine-Pyrimidine Metabo | 1992 |
A xanthinuric family--the proposita having immunologically reactive xanthine oxidase but no xanthine oxidase activity.
Topics: Female; Humans; Hypoxanthine; Hypoxanthines; Immunodiffusion; Liver; Male; Purine-Pyrimidine Metabol | 1991 |
[A new case of urinary xanthine. Association with AIDS].
Topics: Acquired Immunodeficiency Syndrome; Adult; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors | 1989 |
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 |
Effect of fructose infusion in hereditary xanthinuria.
Topics: Adult; Child; Consanguinity; Creatinine; Female; Fructose; Humans; Male; Purine-Pyrimidine Metabolis | 1986 |
Hereditary xanthinuria presenting in infancy with nephrolithiasis.
Topics: Genes, Recessive; Humans; Infant; Kidney Calculi; Male; Purine-Pyrimidine Metabolism, Inborn Errors; | 1986 |
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.
Topics: Adenine; Adenine Nucleotides; Adolescent; Adult; Female; Fructose; Guanosine; Humans; Hypoxanthine; | 1987 |
Asymptomatic xanthinuria detected as a result of routine analysis of serum for urate.
Topics: Adolescent; Adult; Female; Humans; Male; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xan | 1985 |