carbamyl phosphate has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 7 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).
Carbamoyl-Phosphate Synthase I Deficiency Disease: A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
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 | 2 (28.57) | 24.3611 |
2020's | 5 (71.43) | 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 |
Zhang, L | 1 |
Zou, Y | 1 |
Lu, Y | 1 |
Li, Z | 1 |
Gao, F | 1 |
Zhang, S | 3 |
Hu, Y | 3 |
Wu, Z | 3 |
Zhou, X | 3 |
Wu, T | 3 |
Li, P | 3 |
Lian, Q | 3 |
Xu, S | 3 |
Gu, J | 3 |
Chen, L | 3 |
Wu, G | 3 |
Zhang, T | 3 |
Tang, J | 3 |
Xue, J | 3 |
Wang, S | 1 |
Chen, J | 1 |
Zhu, X | 1 |
Huang, T | 1 |
Xu, H | 1 |
Ying, G | 1 |
Qian, H | 1 |
Lin, W | 1 |
Tung, Y | 1 |
Khan, KU | 1 |
Guo, H | 1 |
Zheng, G | 1 |
Lu, H | 1 |
Zhang, G | 1 |
Khoja, S | 1 |
Nitzahn, M | 1 |
Hermann, K | 1 |
Truong, B | 1 |
Borzone, R | 1 |
Willis, B | 1 |
Rudd, M | 1 |
Palmer, DJ | 1 |
Ng, P | 1 |
Brunetti-Pierri, N | 1 |
Lipshutz, GS | 1 |
de Cima, S | 1 |
Polo, LM | 1 |
Díez-Fernández, C | 1 |
Martínez, AI | 1 |
Cervera, J | 1 |
Fita, I | 1 |
Rubio, V | 1 |
2 reviews available for carbamyl phosphate and Carbamoyl-Phosphate Synthase I Deficiency Disease
Article | Year |
---|---|
Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2023 |
Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
5 other studies available for carbamyl phosphate and Carbamoyl-Phosphate Synthase I Deficiency Disease
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 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Deficiency of Carbamoyl Phosphate Synthetase 1 Engenders Radioresistance in Hepatocellular Carcinoma via Deubiquitinating c-Myc.
Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl | 2023 |
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Topics: Ammonia; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency | 2018 |
Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
Topics: Amino Acid Motifs; Ammonia; Animals; Baculoviridae; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoy | 2015 |