xanthine has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome in 22 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 |
|---|---|---|
| "Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 7.88 | Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( Peppas, DS; Rosenberg, E; Shields, LBE, 2018) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 7.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 7.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "We report a case of Lesch-Nyhan syndrome (LNS) with urinary xanthine calculi." | 7.68 | Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. ( Kusuyama, H; Morino, M; Okada, K; Shiigai, N, 1992) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 7.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 7.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "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) |
| "Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)." | 3.88 | Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. ( Peppas, DS; Rosenberg, E; Shields, LBE, 2018) |
| "It is the intention of this report to identify appropriate analytical tests which allow for the monitoring of allopurinol treatment of patients with Lesch-Nyhan syndrome and the prevention of uric acid or xanthine lithiasis." | 3.72 | [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]. ( Muche, J; Rebentisch, G; Stolz, S, 2004) |
| "A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 3.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
| "We report a case of Lesch-Nyhan syndrome (LNS) with urinary xanthine calculi." | 3.68 | Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. ( Kusuyama, H; Morino, M; Okada, K; Shiigai, N, 1992) |
| "In order to explain features of severe hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency, the Lesch-Nyhan syndrome, a continuous supply of substrate, hypoxanthine, for the enzyme must be generated." | 3.68 | The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase. ( Greenwood, R; Harkness, RA; McCreanor, GM, 1991) |
| "Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism associated with a virtually complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyl-transferase (HPRT)." | 3.67 | Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation. ( Parker, BR; Stevens, SK, 1989) |
| "A Japanese boy with Lesch-Nyhan syndrome who passed xanthine calculi is reported." | 3.67 | Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection. ( Ichikawa, Y; Koide, T; Mimaki, T; Oka, T; Sonoda, T; Takaha, M; Utsunomiya, M, 1985) |
| "We report a case of urate overproduction owing to the Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase)." | 3.67 | Xanthine-containing calculi during allopurinol therapy. ( Emmerson, BT; Gordon, RB; Keough, D; Kranen, S, 1985) |
| "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 | 6 (27.27) | 18.7374 |
| 1990's | 8 (36.36) | 18.2507 |
| 2000's | 4 (18.18) | 29.6817 |
| 2010's | 4 (18.18) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Shields, LBE | 1 |
| Peppas, DS | 1 |
| Rosenberg, E | 1 |
| Ng, N | 1 |
| Kaur, A | 1 |
| Shenoy, M | 1 |
| Jacomelli, G | 1 |
| Baldini, E | 1 |
| Mugnaini, C | 1 |
| Micheli, V | 1 |
| Bernardini, G | 1 |
| Santucci, A | 1 |
| Zennaro, C | 1 |
| Tonon, F | 1 |
| Zarattini, P | 1 |
| Clai, M | 1 |
| Corbelli, A | 1 |
| Carraro, M | 1 |
| Marchetti, M | 1 |
| Ronda, L | 1 |
| Paredi, G | 1 |
| Rastaldi, MP | 1 |
| Percudani, R | 1 |
| Bavaresco, CS | 1 |
| Zugno, AI | 1 |
| Tagliari, B | 1 |
| Wannmacher, CM | 1 |
| Wajner, M | 1 |
| Wyse, AT | 1 |
| Rebentisch, G | 1 |
| Stolz, S | 1 |
| Muche, J | 1 |
| Pais, VM | 1 |
| Lowe, G | 1 |
| Lallas, CD | 1 |
| Preminger, GM | 1 |
| Assimos, DG | 1 |
| Torres, RJ | 2 |
| Prior, C | 1 |
| Puig, JG | 3 |
| Page, T | 1 |
| Barshop, B | 1 |
| Yu, AL | 1 |
| Nyhan, WL | 1 |
| Roscioni, G | 1 |
| Farnetani, MA | 1 |
| Pagani, R | 1 |
| Pizzichini, M | 1 |
| Marinello, E | 1 |
| Porcelli, B | 1 |
| Zoref-Shani, E | 1 |
| Bromberg, Y | 1 |
| Brosh, S | 1 |
| Sidi, Y | 1 |
| Sperling, O | 1 |
| Volpe, P | 1 |
| Peyrottes, A | 1 |
| Lammle, M | 1 |
| Saquet, D | 1 |
| Choquenet, C | 1 |
| Mateos, FA | 2 |
| Buño, AS | 1 |
| Morino, M | 1 |
| Shiigai, N | 1 |
| Kusuyama, H | 1 |
| Okada, K | 1 |
| Ramos, TH | 1 |
| Jiménez, ML | 1 |
| Romera, NM | 1 |
| González, AG | 1 |
| Harkness, RA | 1 |
| McCreanor, GM | 1 |
| Greenwood, R | 1 |
| Stevens, SK | 1 |
| Parker, BR | 1 |
| López Jiménez, M | 1 |
| García Puig, J | 1 |
| Mateos Antón, F | 1 |
| Ramos Hernández, T | 1 |
| Pascual Castroviejo, I | 1 |
| Ortiz Vázquez, J | 1 |
| Kish, SJ | 1 |
| Fox, IH | 1 |
| Kapur, BM | 1 |
| Lloyd, K | 1 |
| Hornykiewicz, O | 1 |
| Hiraishi, K | 1 |
| Nakamura, S | 1 |
| Yamamoto, S | 1 |
| Kurokawa, K | 1 |
| Oka, T | 1 |
| Utsunomiya, M | 1 |
| Ichikawa, Y | 1 |
| Koide, T | 1 |
| Takaha, M | 1 |
| Mimaki, T | 1 |
| Sonoda, T | 1 |
| Kranen, S | 1 |
| Keough, D | 1 |
| Gordon, RB | 1 |
| Emmerson, BT | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| [NCT00004314] | Phase 2 | 2 participants | Interventional | 1996-02-29 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
22 other studies available for xanthine and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
| Article | Year |
|---|---|
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
Topics: Allopurinol; Antimetabolites; Child; Factor V; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Male; P | 2018 |
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.
Topics: Allopurinol; Child, Preschool; Fluid Therapy; Humans; Hydrogen-Ion Concentration; Hypoxanthine Phosp | 2019 |
Inhibiting PNP for the therapy of hyperuricemia in Lesch-Nyhan disease: Preliminary in vitro studies with analogues of immucillin-G.
Topics: Allopurinol; Cells, Cultured; Enzyme Inhibitors; Humans; Hyperuricemia; Hypoxanthine; Hypoxanthine P | 2019 |
The renal phenotype of allopurinol-treated HPRT-deficient mouse.
Topics: Allopurinol; Animals; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Mice; Mice, Knoc | 2017 |
Inhibition of Na+, K+-ATPase activity in rat striatum by the metabolites accumulated in Lesch-Nyhan disease.
Topics: Analysis of Variance; Animals; Animals, Newborn; Corpus Striatum; Dose-Response Relationship, Drug; | 2004 |
[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy].
Topics: Allopurinol; Child; Dose-Response Relationship, Drug; Drug Monitoring; Humans; Hypoxanthine; Kidney | 2004 |
Xanthine urolithiasis.
Topics: Adolescent; Allopurinol; Child; Enzyme Inhibitors; Female; Fluid Therapy; Humans; Hydrogen-Ion Conce | 2006 |
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 |
Treatment of Lesch-Nyhan syndrome with AICAR.
Topics: Adolescent; Aminoimidazole Carboxamide; Humans; Hypoxanthine; Hypoxanthines; Infusions, Intravenous; | 1994 |
Plasma and urinary oxypurines in Lesch-Nyhan patient after allopurinol treatment.
Topics: Child; Erythrocytes; Fibroblasts; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypo | 1994 |
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Topics: Adenine; Adenine Nucleotides; Animals; Formates; Guanine; Hypoxanthine; Hypoxanthine Phosphoribosylt | 1993 |
[Xanthine urinary calculus in a patient with Lesch-Nyhan syndrome. Apropos of a case].
Topics: Allopurinol; Antimetabolites; Child; Enzyme Inhibitors; Follow-Up Studies; Humans; Kidney Calculi; L | 1997 |
Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency.
Topics: Adolescent; Adult; Aged; Case-Control Studies; Female; Heterozygote; Humans; Hypoxanthine; Hypoxanth | 1998 |
Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome.
Topics: Allopurinol; Humans; Infant; Kidney Calculi; Lesch-Nyhan Syndrome; Lithotripsy; Male; Xanthine; Xant | 1992 |
Prenatal diagnosis of Lesch-Nyhan syndrome by purine analysis of amniotic fluid and cordocentesis.
Topics: Adult; Amniotic Fluid; Female; Fetal Blood; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransfe | 1991 |
The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.
Topics: Adenosine Triphosphate; Adult; Aging; Body Mass Index; Creatinine; Exercise; Female; Humans; Hypoxan | 1991 |
Renal oxypurine deposition in Lesch-Nyhan syndrome: sonographic evaluation.
Topics: Allopurinol; Child; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1989 |
[Purine transport through the blood-brain barrier in hypoxanthine phosphoribosyltransferase deficiency].
Topics: Adolescent; Adult; Allopurinol; Blood-Brain Barrier; Child; Child, Preschool; Humans; Hypoxanthine; | 1989 |
Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome.
Topics: Adolescent; Adult; Cerebral Cortex; gamma-Aminobutyric Acid; Humans; Hypoxanthine; Hypoxanthines; In | 1985 |
Prevention of xanthine stone formation by augmented dose of allopurinol in the Lesch-Nyhan syndrome.
Topics: Adolescent; Allopurinol; Calculi; Humans; Lesch-Nyhan Syndrome; Male; Xanthine; Xanthines | 1987 |
Xanthine calculi in the patient with the Lesch-Nyhan syndrome associated with urinary tract infection.
Topics: Allopurinol; Child; Combined Modality Therapy; Enterococcus faecalis; Humans; Kidney Calculi; Lesch- | 1985 |
Xanthine-containing calculi during allopurinol therapy.
Topics: Adult; Allopurinol; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; | 1985 |