carbamyl phosphate has been researched along with Urea Cycle Disorders, Inborn in 3 studies
Carbamyl Phosphate: The monoanhydride of carbamic acid with PHOSPHORIC ACID. It is an important intermediate metabolite and is synthesized enzymatically by CARBAMYL-PHOSPHATE SYNTHASE (AMMONIA) and CARBAMOYL-PHOSPHATE SYNTHASE (GLUTAMINE-HYDROLYZING).
Urea Cycle Disorders, Inborn: Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
| 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 (33.33) | 24.3611 |
| 2020's | 2 (66.67) | 2.80 |
| Authors | Studies |
|---|---|
| Ishikawa, R | 1 |
| Sugimoto, T | 1 |
| Abe, T | 1 |
| Ohno, N | 1 |
| Tazuma, T | 1 |
| Giga, M | 1 |
| Naito, H | 1 |
| Kono, T | 1 |
| Nomura, E | 1 |
| Hara, K | 1 |
| Yorifuji, T | 1 |
| Yamawaki, T | 1 |
| Choi, Y | 1 |
| Oh, A | 1 |
| Lee, Y | 1 |
| Kim, GH | 1 |
| Choi, JH | 1 |
| Yoo, HW | 1 |
| Lee, BH | 1 |
| Kok, CY | 1 |
| Cunningham, SC | 1 |
| Kuchel, PW | 1 |
| Alexander, IE | 1 |
3 other studies available for carbamyl phosphate and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
Topics: Adult; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Ca | 2022 |
Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2022 |
Insights into Gene Therapy for Urea Cycle Defects by Mathematical Modeling.
Topics: Carbamyl Phosphate; Computer Simulation; Genetic Therapy; Humans; Models, Biological; Ornithine Carb | 2019 |