uric acid has been researched along with Genetic Diseases, X-Chromosome Linked in 4 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 | 1 (25.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (25.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 1 (25.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bardanzellu, F | 1 |
| Marcialis, MA | 1 |
| Frassetto, R | 1 |
| Melis, A | 1 |
| Fanos, V | 1 |
| 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 |
| CONOLLY, ME | 1 |
| ELLIS, H | 1 |
| Sasaki, S | 1 |
2 reviews available for uric acid and Genetic Diseases, X-Chromosome Linked
| Article | Year |
|---|---|
Differential diagnosis between syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome in children over 1 year: proposal for a simple algorithm.
Topics: Algorithms; Child; Diagnosis, Differential; Genetic Diseases, X-Linked; Humans; Hyponatremia; Inappr | 2022 |
[Hereditary kidney tubular diseases].
Topics: Acidosis, Renal Tubular; Animals; Aquaporins; Chloride Channels; Chloride-Bicarbonate Antiporters; D | 2007 |
2 other studies available for uric acid and Genetic Diseases, X-Chromosome Linked
| 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 |
ANURIA DUE TO URIC ACID CRYSTALLURIA: AN UNUSUAL COMPLICATION OF THERAPY IN THE RETICULOSES.
Topics: Abdominal Neoplasms; Anuria; Blood; Genetic Diseases, X-Linked; Humans; Kidney Diseases; Leukemia, H | 1964 |