citrulline and Inborn Urea Cycle Disorder

citrulline has been researched along with Inborn Urea Cycle Disorder in 16 studies

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's8 (50.00)24.3611
2020's8 (50.00)2.80

Authors

AuthorsStudies
Angeloni, A; Cairoli, S; Carducci, C; Cotugno, G; Di Michele, S; Dionisi-Vici, C; Giovanniello, T; La Marca, G; Lepri, FR; Novelli, A; Olivieri, G; Rossi, C; Semeraro, M; Siri, B1
Cowan, TM; Cusmano-Ozog, KP; Enns, GM; Hall, PL; Lee, CU; Mendelsohn, BA; Stander, Z; Tise, CG; Verscaj, CP; Woods, J1
Burlina, AB; Cazzorla, C; Commone, A; Gragnaniello, V; Gueraldi, D; Häberle, J; Loro, C; Puma, A1
Arnoux, JB; Benoist, JF; Bérat, CM; Bouchereau, J; Brassier, A; de Lonlay, P; Imbard, A; Josse, C; Montestruc, F; Pontoizeau, C; Schiff, M1
Abu Salah, N; Almashanu, S; Anikster, Y; Banne, E; Blau, A; Daas, S; Dar, D; Dumin, E; Falik-Zaccai, T; Fattal-Valevski, A; Hershkovitz, E; Josefsberg, S; Keidar, R; Khammash, H; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, D; Mandel, H; Marom, R; Morag, I; Nadir, E; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rostami, N; Saada, A; Saraf-Levy, T; Segel, R; Shaag, A; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Yosha-Orpaz, N; Zeharia, A1
Caldovic, L; Haskins, N; McNutt, M; Morizono, H; Senkevitch, E; Sonaimuthu, P; Tuchman, M; Uapinyoying, P1
Fiumara, A; Iacobacci, R; Meli, C; Messina, M; Raudino, F1
Billingham, MJ; Rizk, R1
Cynober, L; Forbes, A; Osowska, S; Papadia, C1
Brody, LL; Merritt, JL; Pino, G; Rinaldo, P1
Ballhausen, D; Baumgartner, MR; Beblo, S; Burgard, P; Das, A; Gautschi, M; Glahn, EM; Grünert, SC; Häberle, J; Hennermann, J; Hochuli, M; Huemer, M; Karall, D; Kölker, S; Lachmann, RH; Lindner, M; Lotz-Havla, A; Möslinger, D; Nuoffer, JM; Plecko, B; Rüegger, CM; Rutsch, F; Santer, R; Spiekerkoetter, U; Staufner, C; Stricker, T; Wijburg, FA; Williams, M1
Busanello, EN; Grings, M; Leipnitz, G; Moura, AP; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A1
Amaral, AU; Quincozes-Santos, A; Rodrigues, MD; Souza, DG; Wajner, M; Zanatta, Â1
Endo, F; Kido, J; Matsumoto, S; Mitsubuchi, H; Nakamura, K; Ohura, T; Tanaka, K1
Mayumi, M; Nagasaka, H; Tokuriki, S; Tsukahara, H1
Busanello, EN; de Moura, AP; Ferreira, Gda C; Grings, M; Ritter, L; Schuck, PF; Sitta, A; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M1

Reviews

1 review(s) available for citrulline and Inborn Urea Cycle Disorder

ArticleYear
Citrulline in health and disease. Review on human studies.
    Clinical nutrition (Edinburgh, Scotland), 2018, Volume: 37, Issue:6 Pt A

    Topics: Anabolic Agents; Animals; Arginine; Athletic Performance; Carbamoyl-Phosphate Synthase I Deficiency Disease; Cardiovascular Diseases; Citrulline; Endothelial Cells; Enterocytes; Female; Humans; Immunity; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Oxidative Stress; Protein Biosynthesis; Urea Cycle Disorders, Inborn

2018

Other Studies

15 other study(ies) available for citrulline and Inborn Urea Cycle Disorder

ArticleYear
The diagnostic challenge of mild citrulline elevation at newborn screening.
    Molecular genetics and metabolism, 2022, Volume: 135, Issue:4

    Topics: Citrulline; Citrullinemia; Humans; Infant, Newborn; Neonatal Screening; Urea; Urea Cycle Disorders, Inborn

2022
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
    American journal of medical genetics. Part A, 2023, Volume: 191, Issue:6

    Topics: Citrulline; Humans; Infant, Newborn; Mitochondrial Diseases; Mitochondrial Proton-Translocating ATPases; Neonatal Screening; Pedigree; Urea Cycle Disorders, Inborn

2023
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
    Journal of pediatric endocrinology & metabolism : JPEM, 2023, Sep-26, Volume: 36, Issue:9

    Topics: Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Citrulline; Glutamic Acid; Humans; Infant, Newborn; Urea Cycle Disorders, Inborn

2023
Citrulline in the management of patients with urea cycle disorders.
    Orphanet journal of rare diseases, 2023, 07-21, Volume: 18, Issue:1

    Topics: Ammonia; Arginine; Citrulline; Drug-Related Side Effects and Adverse Reactions; Humans; Retrospective Studies; Urea; Urea Cycle Disorders, Inborn

2023
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:3

    Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Israel; Male; Neonatal Screening; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Retrospective Studies; Urea Cycle Disorders, Inborn

2021
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
New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.
    Clinica chimica acta; international journal of clinical chemistry, 2021, Volume: 520

    Topics: Biomarkers; Citrulline; Early Diagnosis; Glutamine; Humans; Infant, Newborn; Urea Cycle Disorders, Inborn

2021
Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy.
    BMJ case reports, 2021, Jul-01, Volume: 14, Issue:7

    Topics: Citrulline; Female; Humans; Hyperammonemia; Ornithine; Pregnancy; Urea Cycle Disorders, Inborn

2021
Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening.
    Molecular genetics and metabolism, 2018, Volume: 124, Issue:2

    Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Male; Neonatal Screening; Pilot Projects; Practice Guidelines as Topic; Prospective Studies; Retrospective Studies; Urea Cycle Disorders, Inborn

2018
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1

    Topics: Adolescent; Adult; Age of Onset; Aged; Arginine; Child; Child, Preschool; Citrulline; Cognition Disorders; Cohort Studies; Cross-Sectional Studies; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Neonatal Screening; Ornithine Carbamoyltransferase Deficiency Disease; Time Factors; Treatment Outcome; Urea Cycle Disorders, Inborn; Young Adult

2014
Disturbance of redox homeostasis by ornithine and homocitrulline in rat cerebellum: a possible mechanism of cerebellar dysfunction in HHH syndrome.
    Life sciences, 2013, Aug-06, Volume: 93, Issue:4

    Topics: Aconitate Hydratase; Animals; Cerebellum; Citrulline; Creatine Kinase; Electron Transport; Glutathione; Homeostasis; Hydrogen Peroxide; Hyperammonemia; Ketoglutarate Dehydrogenase Complex; Nerve Tissue Proteins; Nitrates; Nitrites; Ornithine; Oxidation-Reduction; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Thiobarbituric Acid Reactive Substances; Urea Cycle Disorders, Inborn

2013
Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome.
    Neurochemical research, 2016, Volume: 41, Issue:9

    Topics: Amino Acid Transport Systems, Basic; Animals; Antioxidants; Astrocytes; Cell Death; Citrulline; Hyperammonemia; Male; Mitochondria; Ornithine; Rats, Wistar; Tumor Necrosis Factor-alpha; Urea Cycle Disorders, Inborn

2016
Citrulline for urea cycle disorders in Japan.
    Pediatrics international : official journal of the Japan Pediatric Society, 2017, Volume: 59, Issue:4

    Topics: Adolescent; Child; Child, Preschool; Citrulline; Diet; Dietary Proteins; Female; Health Surveys; Humans; Infant; Japan; Male; Retrospective Studies; Treatment Outcome; Urea Cycle Disorders, Inborn; Weight Gain

2017
Coupling of the citrulline recycling to endothelial NO production.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:4

    Topics: Citrulline; Endothelium; Humans; Hypertension; Nitric Oxide; Oxidative Stress; Urea Cycle Disorders, Inborn

2010
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Brain research, 2011, Jan-19, Volume: 1369

    Topics: Animals; Cerebral Cortex; Citrulline; Hyperammonemia; Injections, Intraventricular; Lipid Peroxidation; Ornithine; Oxidative Stress; Rats; Rats, Wistar; Urea Cycle Disorders, Inborn

2011