carglumic acid has been researched along with Urea Cycle Disorders, Inborn in 10 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 | 9 (90.00) | 24.3611 |
| 2020's | 1 (10.00) | 2.80 |
| Authors | Studies |
|---|---|
| Caldovic, L; Haskins, N; McNutt, M; Morizono, H; Senkevitch, E; Sonaimuthu, P; Tuchman, M; Uapinyoying, P | 1 |
| Calabresi, P; Cavicchi, C; Chilleri, C; Costa, C; Donati, MA; Ferri, L; Fioravanti, A; Funghini, S; la Marca, G; Morrone, A; Pasquini, E; Pochiero, F; Prontera, P; Ripandelli, F | 1 |
| Carella, A; Di Mauro, AM; Fedele, S; Masciopinto, M; Melpignano, L; Ortolani, F; Papadia, F; Piccinno, E; Tummolo, A; Vendemiale, M | 1 |
| De Meirleir, L; Goyens, P; Jansen, A; Jonckheere, A; Martens, G; Peeters, S; Van Leynseele, A | 1 |
| Burckhardt, BC; Burckhardt, G; Hagos, Y; Schwob, E | 1 |
| Cho, JH; Choi, JH; Kim, GH; Kim, JH; Kim, YM; Lee, BH; Yoo, HW | 1 |
| Takayanagi, M | 1 |
| Diez-Fernandez, C; Häberle, J | 1 |
| Ah Mew, N; Caldovic, L; Daikhin, Y; Heibel, SK; Tuchman, M; Yudkoff, M | 1 |
| Kiykim, E; Zubarioglu, T | 1 |
2 review(s) available for carglumic acid and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
Topics: Age of Onset; Amino-Acid N-Acetyltransferase; Biomarkers; Brain; Electroencephalography; Female; Glutamates; Humans; Middle Aged; Symptom Assessment; Treatment Outcome; Urea Cycle Disorders, Inborn | 2018 |
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 |
8 other study(ies) available for carglumic acid and Urea Cycle Disorders, Inborn
| Article | Year |
|---|---|
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
Topics: Amino-Acid N-Acetyltransferase; Animals; Arginine; Citrulline; Dependovirus; Disease Models, Animal; Gene Transfer Techniques; Glutamates; Humans; Hyperammonemia; Mice; Mice, Knockout; Mutant Proteins; Urea; Urea Cycle Disorders, Inborn | 2021 |
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.
Topics: Administration, Oral; Adolescent; Amino-Acid N-Acetyltransferase; Biomarkers; Chronic Disease; Developmental Disabilities; Dose-Response Relationship, Drug; Glutamates; Humans; Hyperammonemia; Male; Propionic Acidemia; Urea Cycle Disorders, Inborn | 2018 |
Early treatment of a child with NAGS deficiency using N-carbamyl glutamate results in a normal neurological outcome.
Topics: Amino-Acid N-Acetyltransferase; Brain; Female; Glutamates; Humans; Infant, Newborn; Time Factors; Urea Cycle Disorders, Inborn | 2014 |
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency.
Topics: Amino-Acid N-Acetyltransferase; Animals; Dicarboxylic Acid Transporters; Glutamates; HEK293 Cells; Humans; Kidney Tubules, Proximal; Membrane Potentials; Organic Anion Transport Protein 1; Organic Anion Transporters, Sodium-Dependent; Renal Elimination; Symporters; Transfection; Urea Cycle Disorders, Inborn; Xenopus laevis | 2014 |
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
Topics: Amino-Acid N-Acetyltransferase; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; Glutamates; Humans; Male; Molecular Sequence Data; Treatment Outcome; Urea Cycle Disorders, Inborn | 2015 |
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.
Topics: Amino-Acid N-Acetyltransferase; Glutamates; Humans; Treatment Outcome; Urea Cycle Disorders, Inborn | 2015 |
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
Topics: Adolescent; Alleles; Amino-Acid N-Acetyltransferase; Base Sequence; Binding Sites; Cell Line, Tumor; Child; Enhancer Elements, Genetic; Female; Gene Frequency; Glutamates; Hep G2 Cells; Hepatocyte Nuclear Factor 1; Humans; Nucleotide Motifs; Polymorphism, Single Nucleotide; Sequence Alignment; Sequence Deletion; Treatment Outcome; Urea Cycle Disorders, Inborn | 2011 |
Low dose of carglumic acid for treatment of hyperammonemia due to N-acetylglutamate synthase deficiency.
Topics: Amino-Acid N-Acetyltransferase; Child, Preschool; Glutamates; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Urea Cycle Disorders, Inborn | 2014 |