Page last updated: 2024-09-03

carglumic acid and Urea Cycle Disorders, Inborn

carglumic acid has been researched along with Urea Cycle Disorders, Inborn in 10 studies

Research

Studies (10)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's9 (90.00)24.3611
2020's1 (10.00)2.80

Authors

AuthorsStudies
Caldovic, L; Haskins, N; McNutt, M; Morizono, H; Senkevitch, E; Sonaimuthu, P; Tuchman, M; Uapinyoying, P1
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, F1
Carella, A; Di Mauro, AM; Fedele, S; Masciopinto, M; Melpignano, L; Ortolani, F; Papadia, F; Piccinno, E; Tummolo, A; Vendemiale, M1
De Meirleir, L; Goyens, P; Jansen, A; Jonckheere, A; Martens, G; Peeters, S; Van Leynseele, A1
Burckhardt, BC; Burckhardt, G; Hagos, Y; Schwob, E1
Cho, JH; Choi, JH; Kim, GH; Kim, JH; Kim, YM; Lee, BH; Yoo, HW1
Takayanagi, M1
Diez-Fernandez, C; Häberle, J1
Ah Mew, N; Caldovic, L; Daikhin, Y; Heibel, SK; Tuchman, M; Yudkoff, M1
Kiykim, E; Zubarioglu, T1

Reviews

2 review(s) available for carglumic acid and Urea Cycle Disorders, Inborn

ArticleYear
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
    International journal of molecular sciences, 2018, Jan-24, Volume: 19, Issue:2

    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.
    Expert opinion on therapeutic targets, 2017, Volume: 21, Issue:4

    Topics: Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Genetic Therapy; Glutamates; Humans; Molecular Chaperones; Mutation; Urea Cycle Disorders, Inborn

2017

Other Studies

8 other study(ies) available for carglumic acid and Urea Cycle Disorders, Inborn

ArticleYear
Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
    Scientific reports, 2021, 02-11, Volume: 11, Issue:1

    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.
    Journal of medical case reports, 2018, Apr-22, Volume: 12, Issue:1

    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.
    European journal of pediatrics, 2014, Volume: 173, Issue:12

    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.
    American journal of physiology. Renal physiology, 2014, Dec-15, Volume: 307, Issue:12

    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.
    Journal of human genetics, 2015, Volume: 60, Issue:7

    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.
    Journal of human genetics, 2015, Volume: 60, Issue:7

    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.
    Human mutation, 2011, Volume: 32, Issue:10

    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.
    Indian pediatrics, 2014, Volume: 51, Issue:9

    Topics: Amino-Acid N-Acetyltransferase; Child, Preschool; Glutamates; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Urea Cycle Disorders, Inborn

2014