carglumic acid has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 3 studies
| 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 | 3 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ah Mew, N; Daikhin, Y; Lichter-Konecki, U; McCarter, R; Nissim, I; Tuchman, M; Yudkoff, M | 1 |
| Ah Mew, N; Shi, D; Tuchman, M; Zhao, G | 1 |
| Diez-Fernandez, C; Häberle, J | 1 |
1 review(s) available for carglumic acid and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder.
Topics: Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Genetic Therapy; Glutamates; Humans; Molecular Chaperones; Mutation; Urea Cycle Disorders, Inborn | 2017 |
1 trial(s) available for carglumic acid and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.
Topics: Adolescent; Adult; Ammonia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Preschool; Female; Glutamates; Glutamine; Humans; Linear Models; Male; Mass Spectrometry; Treatment Outcome; Urea; Young Adult | 2014 |
1 other study(ies) available for carglumic acid and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.
Topics: Adenosine Triphosphate; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Drug Therapy, Combination; Female; Glutamates; Humans; Male; Mice; Mutation; Precision Medicine; Protein Stability; Protein Structure, Tertiary; Rare Diseases | 2017 |