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carbamyl phosphate and Carbamoyl-Phosphate Synthase I Deficiency Disease

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)

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's2 (28.57)24.3611
2020's5 (71.43)2.80

Authors

AuthorsStudies
Ishikawa, R1
Sugimoto, T1
Abe, T1
Ohno, N1
Tazuma, T1
Giga, M1
Naito, H1
Kono, T1
Nomura, E1
Hara, K1
Yorifuji, T1
Yamawaki, T1
Choi, Y1
Oh, A1
Lee, Y1
Kim, GH1
Choi, JH1
Yoo, HW1
Lee, BH1
Zhang, L1
Zou, Y1
Lu, Y1
Li, Z1
Gao, F1
Zhang, S3
Hu, Y3
Wu, Z3
Zhou, X3
Wu, T3
Li, P3
Lian, Q3
Xu, S3
Gu, J3
Chen, L3
Wu, G3
Zhang, T3
Tang, J3
Xue, J3
Wang, S1
Chen, J1
Zhu, X1
Huang, T1
Xu, H1
Ying, G1
Qian, H1
Lin, W1
Tung, Y1
Khan, KU1
Guo, H1
Zheng, G1
Lu, H1
Zhang, G1
Khoja, S1
Nitzahn, M1
Hermann, K1
Truong, B1
Borzone, R1
Willis, B1
Rudd, M1
Palmer, DJ1
Ng, P1
Brunetti-Pierri, N1
Lipshutz, GS1
de Cima, S1
Polo, LM1
Díez-Fernández, C1
Martínez, AI1
Cervera, J1
Fita, I1
Rubio, V1

Reviews

2 reviews available for carbamyl phosphate and Carbamoyl-Phosphate Synthase I Deficiency Disease

ArticleYear
Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases.
    Bioorganic chemistry, 2023, Volume: 130

    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.
    BMC medical genomics, 2023, 06-26, Volume: 16, Issue:1

    Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Carbamyl

2023

Other Studies

5 other studies available for carbamyl phosphate and Carbamoyl-Phosphate Synthase I Deficiency Disease

ArticleYear
A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.
    Internal medicine (Tokyo, Japan), 2022, May-01, Volume: 61, Issue:9

    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.
    Clinica chimica acta; international journal of clinical chemistry, 2022, Feb-01, Volume: 526

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    International journal of radiation oncology, biology, physics, 2023, 04-01, Volume: 115, Issue:5

    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.
    Molecular genetics and metabolism, 2018, Volume: 124, Issue:4

    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.
    Scientific reports, 2015, Nov-23, Volume: 5

    Topics: Amino Acid Motifs; Ammonia; Animals; Baculoviridae; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoy

2015