thymidine has been researched along with Lesch-Nyhan Syndrome in 13 studies
Lesch-Nyhan Syndrome: An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
| Excerpt | Relevance | Reference |
|---|---|---|
| "The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation." | 7.68 | Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993) |
| "The inherited disease Lesch-Nyhan syndrome, which is caused by a deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT), is characterized by behavioural alterations, including self-injurious behaviour and mental retardation." | 3.68 | Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. ( Melton, DW; Wu, CL, 1993) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 11 (84.62) | 18.7374 |
| 1990's | 2 (15.38) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Strauss, GH | 1 |
| Allen, EF | 1 |
| Albertini, RJ | 2 |
| Wu, CL | 1 |
| Melton, DW | 1 |
| Cheng, RZ | 1 |
| Shammas, MA | 1 |
| Li, J | 1 |
| Shmookler Reis, RJ | 1 |
| Allison, AC | 2 |
| Hovi, T | 2 |
| Watts, RW | 2 |
| Webster, AD | 2 |
| de Bruyn, C | 1 |
| Gausset, P | 1 |
| Duchateau, J | 1 |
| Vamos, E | 1 |
| Kulakowski, S | 1 |
| Delespesse, G | 1 |
| Zielke, HR | 1 |
| Ozand, PT | 1 |
| Tildon, JT | 1 |
| Sevdalian, DA | 1 |
| Cornblath, M | 1 |
| Bakay, B | 1 |
| Nyhan, WL | 1 |
| Croce, CM | 1 |
| Koprowski, H | 1 |
| Jenkins, EC | 1 |
| DeMars, R | 1 |
| van Zeeland, AA | 1 |
| de Ruijter, CE | 1 |
| Simons, JW | 1 |
| Wood, S | 1 |
| Pinsky, L | 1 |
| Siniscalco, M | 1 |
| Knowles, BB | 1 |
| Steplewski, Z | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| A Phase 1 Trial of AVN944, an IMPDH Inhibitor, in Adults With Advanced Stage Solid Tumors[NCT00923728] | 0 participants (Actual) | Interventional | 2009-04-30 | Withdrawn | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 review available for thymidine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
The role of de novo purine synthesis in lymphocyte transformation.
Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Adolescent; Adult; Allopurinol; Azaserine; B | 1977 |
12 other studies available for thymidine and Lesch-Nyhan Syndrome
| Article | Year |
|---|---|
An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.
Topics: Adolescent; Adult; Aged; Autoradiography; Child; Drug Resistance; Female; Fibroblasts; Genetic Carri | 1980 |
Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Brain; Caffeine; Cell Division; Cells, Cultured | 1993 |
Expression of SV40 large T antigen stimulates reversion of a chromosomal gene duplication in human cells.
Topics: Antigens, Polyomavirus Transforming; Cell Division; Cell Line, Transformed; Cell Transformation, Vir | 1997 |
Immunological observations on patients with Lesch-Nyhan syndrome, and on the role of de-novo purine synthesis in lymphocyte transformation.
Topics: Adenosine Deaminase; Adolescent; Azaserine; B-Lymphocytes; Child; Child, Preschool; Hemagglutinins; | 1975 |
Immunological studies on Lesch-Nyhan patients.
Topics: Adolescent; Child; DNA Replication; Erythrocytes; Humans; Immunoglobulins; Lesch-Nyhan Syndrome; Lym | 1979 |
Growth of human diploid fibroblasts in the absence of glucose utilization.
Topics: Cell Division; Cells, Cultured; Culture Media; Glucose; Glutamates; Glutamine; Humans; Hypoxanthines | 1976 |
Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization.
Topics: Aminopterin; Animals; Cell Fusion; Cell Line; Clone Cells; Cricetinae; Culture Media; Electrophoresi | 1975 |
Wire-loop application of liquid emulsion to slides for autoradiography in light microscopy.
Topics: Autoradiography; Chromosomes, Human, 13-15; Detergents; Emulsions; Histological Techniques; Humans; | 1972 |
Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.
Topics: Adolescent; Adult; Azaguanine; Evaluation Studies as Topic; Female; Gene Frequency; Hemagglutination | 1974 |
The role of 8-azaguanine in the selection from human diploid cells of mutants deficient in hypoxanthine-guanine-phosphoribosyl-transferase (HGPRT).
Topics: Aminopterin; Autoradiography; Azaguanine; Cell Line; Clone Cells; Culture Media; Drug Resistance; Fi | 1974 |
Adaptive significance of inosine and adenosine kinase activities in cultured human skin fibroblasts.
Topics: Adenine; Adenosine; Azaserine; Cells, Cultured; Fibroblasts; Guanine; Humans; Hypoxanthines; Inosine | 1972 |
Hybridization of human diploid strains carrying X-linked mutants and its potential in studies of somatic cell genetics.
Topics: Anemia, Hemolytic, Congenital Nonspherocytic; Autoradiography; Cell Fusion; Cell Line; Cell Nucleus; | 1969 |