uric acid has been researched along with Ataxia in 3 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.
Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
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 | 2 (66.67) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (33.33) | 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 |
MAVROMATIS, F | 1 |
Rosenberg, AL | 1 |
Bergstrom, L | 1 |
Troost, BT | 1 |
Bartholomew, BA | 1 |
3 other studies available for uric acid and Ataxia
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 |
TETRACYCLINE NEPHROPATHY; CASE REPORT WITH RENAL BIOPSY.
Topics: Acidosis; Acidosis, Renal Tubular; Ataxia; Biopsy; Blood; Chemistry, Pharmaceutical; Glycosuria; Gly | 1965 |
Hyperuricemia and neurologic deficits. A family study.
Topics: Adult; Ataxia; Deafness; Erythrocytes; Female; Humans; Kidney Diseases; Kidney Function Tests; Male; | 1970 |