glutamine has been researched along with Carbamoyl-Phosphate Synthase I Deficiency Disease in 8 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (25.00) | 29.6817 |
| 2010's | 6 (75.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Borzone, R; Brunetti-Pierri, N; Hermann, K; Khoja, S; Lipshutz, GS; Ng, P; Nitzahn, M; Palmer, DJ; Rudd, M; Truong, B; Willis, B | 1 |
| Allegri, G; Häberle, J; Khoja, S; Lambert, J; Lipshutz, GS; Nitzahn, M; Rüfenacht, V; Truong, B; Willis, B | 1 |
| Ah Mew, N; Daikhin, Y; Lichter-Konecki, U; McCarter, R; Nissim, I; Tuchman, M; Yudkoff, M | 1 |
| Enns, GM | 1 |
| Arranz, JA; Artuch, R; Briones, P; Campistol, J; Fons, C; García-Cazorla, A; Gómez-López, L; Häberle, J; Jara, F; Martins, C; Murgui, E; Pérez-Dueñas, B; Pineda, M; Serrano, M; Vilaseca, MA | 1 |
| Barcelona, B; Cervera, J; Finckh, U; Martínez, AI; Pekkala, S; Rubio, V; Yefimenko, I | 1 |
| Mhanni, AA; Prasad, C; Rockman-Greenberg, C | 1 |
| Kojic, J; Martin, DM; Pang, Y; Quint, DJ; Robertson, PL; Sundgren, PC | 1 |
1 review(s) available for glutamine and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
Neurologic damage and neurocognitive dysfunction in urea cycle disorders.
Topics: Brain Edema; Carbamoyl-Phosphate Synthase I Deficiency Disease; Cognition Disorders; Glutamine; Humans; Metabolism, Inborn Errors; Mitochondria; Seizures; Urea | 2008 |
1 trial(s) available for glutamine 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 |
6 other study(ies) available for glutamine and Carbamoyl-Phosphate Synthase I Deficiency Disease
| Article | Year |
|---|---|
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 Disease; Carbamyl Phosphate; Female; Gene Expression Regulation, Enzymologic; Genetic Therapy; Glutamine; Humans; Hyperammonemia; Liver; Male; Mice; Mice, Knockout; Mutation; Orotate Phosphoribosyltransferase; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors | 2018 |
A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
Topics: Animals; Animals, Newborn; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Glutamine; Hyperammonemia; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation | 2019 |
Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
Topics: Adolescent; Adult; Age of Onset; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Preschool; Citrullinemia; Female; Follow-Up Studies; Glutamine; Humans; Male; Mental Disorders; Ornithine Carbamoyltransferase Deficiency Disease; Quaternary Ammonium Compounds; Retrospective Studies; Treatment Outcome; Urea Cycle Disorders, Inborn | 2010 |
Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
Topics: Animals; Binding Sites; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Cell Line; Enzyme Stability; Glutamine; Humans; Kinetics; Models, Molecular; Mutagenesis, Site-Directed; Mutant Proteins; Mutation; Polymorphism, Genetic; Protein Folding; Protein Structure, Tertiary; Rats; Recombinant Proteins; Spodoptera; Structure-Activity Relationship; Substrate Specificity; Temperature | 2010 |
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
Topics: Abdominal Pain; Alkalosis, Respiratory; Arginine; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child, Preschool; Citrulline; Consciousness Disorders; Diagnosis, Differential; Diet, Protein-Restricted; Emergencies; Exons; Female; Glutamine; Humans; Hyperammonemia; Language Development Disorders; Liver Transplantation; Mutation, Missense; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Recurrence | 2011 |
Brain glutamine by MRS in a patient with urea cycle disorder and coma.
Topics: Adolescent; Brain; Carbamoyl-Phosphate Synthase I Deficiency Disease; Female; Glutamic Acid; Glutamine; Humans; Magnetic Resonance Spectroscopy; Recovery of Function; Treatment Outcome | 2005 |