uric acid has been researched along with Bilateral Deafness in 1 studies
Uric Acid: An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN.
uric acid : An oxopurine that is the final oxidation product of purine metabolism.
6-hydroxy-1H-purine-2,8(7H,9H)-dione : A tautomer of uric acid having oxo groups at C-2 and C-8 and a hydroxy group at C-6.
7,9-dihydro-1H-purine-2,6,8(3H)-trione : An oxopurine in which the purine ring is substituted by oxo groups at positions 2, 6, and 8.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections." | 3.78 | Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. ( Christodoulou, J; de Brouwer, AP; Duley, J; Friedman, NR; Kuilenburg, AB; Moran, R; Nabuurs, SB; Retno-Fitri, A; Roelofsen, J; van Bokhoven, H; Yntema, HG, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Moran, R | 1 |
| Kuilenburg, AB | 1 |
| Duley, J | 1 |
| Nabuurs, SB | 1 |
| Retno-Fitri, A | 1 |
| Christodoulou, J | 1 |
| Roelofsen, J | 1 |
| Yntema, HG | 1 |
| Friedman, NR | 1 |
| van Bokhoven, H | 1 |
| de Brouwer, AP | 1 |
1 other study available for uric acid and Bilateral Deafness
| Article | Year |
|---|---|
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Topics: Ataxia; Child, Preschool; Deaf-Blind Disorders; Enzyme Activation; Genetic Diseases, X-Linked; Genet | 2012 |