uric acid has been researched along with Neuronal Ceroid-Lipofuscinoses 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.
Neuronal Ceroid-Lipofuscinoses: A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Renal hypouricemia (RHUC) is a heterogeneous inherited disorder characterized by impaired tubular uric acid (UA) transport with severe complications, such as acute kidney injury (AKI)." | 3.79 | Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis. ( Hulkova, H; Ichida, K; Jahnova, H; Krylov, V; Kryspinova, L; Nakamura, M; Sebesta, I; Stiburkova, B, 2013) |
| 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 |
|---|---|
| Stiburkova, B | 1 |
| Sebesta, I | 1 |
| Ichida, K | 1 |
| Nakamura, M | 1 |
| Hulkova, H | 1 |
| Krylov, V | 1 |
| Kryspinova, L | 1 |
| Jahnova, H | 1 |
1 other study available for uric acid and Neuronal Ceroid-Lipofuscinoses
| Article | Year |
|---|---|
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.
Topics: Absorption; Acute Kidney Injury; Adult; Alleles; Animals; Child; Czech Republic; Endoplasmic Reticul | 2013 |