arginine and Citrullinemia

arginine has been researched along with Citrullinemia in 27 studies

Research

Studies (27)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (3.70)18.2507
2000's9 (33.33)29.6817
2010's13 (48.15)24.3611
2020's4 (14.81)2.80

Authors

AuthorsStudies
Jung, SM; Kim, K1
Hirashima, N; Ito, S; Iwase, H; Kondo, H; Kondo, T; Saito, M; Saitoh, S; Shimada, M; Tanaka, D; Tanaka, Y; Togawa, T; Tsunekawa, T; Unita, S; Urata, N1
Glinton, KE; Kaushal, S; Marom, R; Nguyen, JM1
Chen, CH; Kenyon, NJ; Li, JM; Linderholm, A; Liu, J; Oldham, J; Yang, DC; Zhang, J1
Hagiwara, K; Hori, Y; Ikeda, JI; Kanai, Y; Kurashige, M; Morii, E; Nojima, S; Ohshima, K; Oki, S; Okuzaki, D; Tahara, S; Wada, N1
Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE1
Attri, S; Saini, AG; Sankhyan, N; Singhi, P1
Beggs, A; Bessudo, A; Cheng, P; De Santo, C; Egan, S; Mussai, F1
Fu, Q; Gao, H; Jiang, M; Lin, W; Lin, Y; Lu, B; Zheng, T; Zhou, S; Zhu, L1
Avdjieva-Tzavella, DM; Ivanova, MB; Kathom, HM; Lazarova, EA; Panteleeva, EI; Tincheva, RS; Tincheva, SS; Todorov, TP; Todorova, AP; Yaneva, PG1
Bomalaski, J; Feun, LG; He, W; Kuo, MT; Li, YY; Savaraj, N; Wangpaichitr, M; Wu, C; You, M1
Avril, NE; Beck, S; Bomalaski, JS; Butcher, L; Crook, T; Dancey, G; Ellis, S; Fennell, D; Gilligan, D; Hackshaw, A; Hillman, P; Johnston, A; Lawrence, C; Lemoine, N; Lind, M; Luong, P; Mitra, S; Nolan, L; Payne, S; Phillips, MM; Rudd, RM; Schmid, P; Shamash, J; Sheaff, MT; Spicer, J; Steele, JP; Szlosarek, PW; Szyszko, T; Taylor, P; Thomson, J; Tomsa, M; Wu, BW1
Kotaka, M; Nishikubo, T; Nomoto, K; Okamoto, S; Okita, K; Osafune, K; Soga, T; Takubo, N; Toyoda, T; Uemoto, S; Yasuchika, K; Yasuda, K; Yoshitoshi-Uebayashi, EY1
Kobayashi, K; Kurokawa, K; Mutoh, K; Saheki, T1
Fukushima, K; Ikeda, S; Kobayashi, K; Nakamura, M; Saheki, T; Takei, H; Tanaka, N; Yazaki, M1
Aubin, I; Barnhart, KF; Benavides, F; Brandon, JL; Conti, CJ; DiGiovanni, J; Gimenez-Conti, I; Giulivi, C; Guénet, JL; Jaubert, J; Kusewitt, DF; Otto, NW; Perez, CJ; Quintanilla, VC; Ross-Inta, CM1
Cuppen, M; de Groot, MJ; de Vries, MM; Eling, M; Reijngoud, DJ; Rings, EH; van Spronsen, FJ; Verheijen, FW1
Fujimi, S; Fukushima, K; Hineno, A; Ikeda, S; Kimura, R; Kinoshita, M; Matsunaga, H; Matsushima, A; Ogawa, S; Saheki, T; Tazawa, K; Yanagida, M; Yazaki, M1
Aupetit, J; Bardet, J; Blanc, A; Chabli, A; Chadefaux-Vekemans, B; Kamoun, P; Rabier, D1
Bomalaski, JS; Clark, MA; Curley, SA; Dillon, BJ; Ensor, CM; Holtsberg, FW; Prieto, VG1
Yazaki, M1
Izkovitch, S; Korman, SH; Levy, N; Mandel, H1
Das, AM; Kanzelmeyer, N; Lücke, T; Tsikas, D; Vaske, B1
Ikeda, S2
Sass, JO; Skladal, D1
Matsumura, R1

Reviews

5 review(s) available for arginine and Citrullinemia

ArticleYear
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
    BMC medical genetics, 2019, 06-17, Volume: 20, Issue:1

    Topics: Arginine; Argininosuccinate Synthase; Asian People; Base Sequence; China; Citrulline; Citrullinemia; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Infant, Newborn; Language Development Disorders; Male; Mutation; Pedigree; Phenotype; Phenylalanine; RNA Splicing

2019
[Adult-onset type II citrullinemia].
    No to shinkei = Brain and nerve, 2003, Volume: 55, Issue:12

    Topics: Adult; Ammonia; Arginine; Brain; Calcium-Binding Proteins; Citrulline; Citrullinemia; Female; Humans; Liver; Liver Transplantation; Magnetic Resonance Imaging; Male; Middle Aged; Organic Anion Transporters

2003
[Adult-onset citrullinemia].
    No to shinkei = Brain and nerve, 2007, Volume: 59, Issue:1

    Topics: Administration, Oral; Age of Onset; Arginine; Argininosuccinate Synthase; Calcium-Binding Proteins; Cholestasis, Intrahepatic; Chronic Disease; Citrullinemia; Contraindications; Glycerol; Liver Neoplasms; Liver Transplantation; Mutation; Organic Anion Transporters; Pancreatitis; Phenotype

2007
[Adult-onset citrullinemia].
    Brain and nerve = Shinkei kenkyu no shinpo, 2007, Volume: 59, Issue:1

    Topics: Administration, Oral; Adult; Age of Onset; Arginine; Argininosuccinate Synthase; Calcium-Binding Proteins; Cholestasis, Intrahepatic; Chronic Disease; Citrullinemia; Contraindications; Glycerol; Humans; Liver Neoplasms; Liver Transplantation; Mutation; Organic Anion Transporters; Pancreatitis; Phenotype

2007
[Disorders of the urea cycle].
    Ryoikibetsu shokogun shirizu, 2000, Issue:29 Pt 4

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Humans; Nervous System Diseases; Ornithine Carbamoyltransferase Deficiency Disease; Prognosis; Urea

2000

Trials

2 trial(s) available for arginine and Citrullinemia

ArticleYear
Metabolic therapy with PEG-arginase induces a sustained complete remission in immunotherapy-resistant melanoma.
    Journal of hematology & oncology, 2018, 05-18, Volume: 11, Issue:1

    Topics: Aged; Antibodies; Arginase; Arginine; Citrullinemia; Drug Resistance; Humans; Immunotherapy; Male; Melanoma; Neoplasm Metastasis; Ornithine Carbamoyltransferase Deficiency Disease; Polyethylene Glycols; Remission Induction; Salvage Therapy; Treatment Failure

2018
Arginine Deprivation With Pegylated Arginine Deiminase in Patients With Argininosuccinate Synthetase 1-Deficient Malignant Pleural Mesothelioma: A Randomized Clinical Trial.
    JAMA oncology, 2017, Jan-01, Volume: 3, Issue:1

    Topics: Aged; Aged, 80 and over; Arginine; Argininosuccinate Synthase; Biomarkers, Tumor; Citrullinemia; Disease-Free Survival; DNA Methylation; Endpoint Determination; Female; Humans; Hydrolases; Lung Neoplasms; Male; Mesothelioma; Mesothelioma, Malignant; Middle Aged; Polyethylene Glycols; Treatment Outcome

2017

Other Studies

20 other study(ies) available for arginine and Citrullinemia

ArticleYear
Desflurane and remifentanil anesthesia in a child with citrin deficiency: A case report.
    Medicine, 2022, Mar-04, Volume: 101, Issue:9

    Topics: Ammonia; Anesthesia, General; Arginine; Blepharoplasty; Calcium-Binding Proteins; Child, Preschool; Citrullinemia; Desflurane; Endotoxins; Female; Humans; Hyperammonemia; Mitochondrial Membrane Transport Proteins; Organic Anion Transporters; Remifentanil

2022
Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and L-arginine after DNA analysis produced a definitive diagnosis.
    Clinical journal of gastroenterology, 2020, Volume: 13, Issue:5

    Topics: Arginine; Citrullinemia; Diet, Carbohydrate-Restricted; DNA; Humans; Male; Middle Aged; Mitochondrial Membrane Transport Proteins

2020
A Somnolent Neonate With Hypothermia and Posturing.
    Clinical pediatrics, 2020, Volume: 59, Issue:8

    Topics: Ammonia; Arginine; Citrullinemia; Diagnosis, Differential; Diet, Protein-Restricted; Disorders of Excessive Somnolence; Humans; Hypothermia; Infant, Newborn; Male; Seizures

2020
Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2021, 04-07, Volume: 29, Issue:4

    Topics: Animals; Arginine; Argininosuccinate Synthase; Bleomycin; Cell Movement; Cell Proliferation; Citrullinemia; Female; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Hydrolases; Lung; Male; Mice; Primary Cell Culture; Proto-Oncogene Proteins c-met; Pulmonary Fibrosis; src-Family Kinases; STAT3 Transcription Factor

2021
Argininosuccinate Synthase 1-Deficiency Enhances the Cell Sensitivity to Arginine through Decreased DEPTOR Expression in Endometrial Cancer.
    Scientific reports, 2017, 03-30, Volume: 7

    Topics: Arginine; Cell Movement; Cell Proliferation; Citrullinemia; Endometrial Neoplasms; Female; Humans; Intracellular Signaling Peptides and Proteins; Mechanistic Target of Rapamycin Complex 1; Signal Transduction; Tumor Cells, Cultured

2017
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4

    Topics: Adolescent; Adult; Ammonia; Arginine; Argininosuccinic Aciduria; Biomarkers; Child; Child, Preschool; Citrulline; Citrullinemia; Female; Glutamine; Humans; Hyperargininemia; Longitudinal Studies; Male; Middle Aged; Neuropsychological Tests; Young Adult

2018
Hypomorphic citrullinaemia due to mutated
    BMJ case reports, 2018, Apr-25, Volume: 2018

    Topics: Administration, Oral; Arginine; Ataxia; Child; Citrullinemia; Diet, Protein-Restricted; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Male; Mutation, Missense; Sodium Benzoate

2018
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene.
    Genetic counseling (Geneva, Switzerland), 2014, Volume: 25, Issue:3

    Topics: Arginine; Bulgaria; Calcium-Binding Proteins; Citrulline; Citrullinemia; DNA Mutational Analysis; Female; Follow-Up Studies; Galactose; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Methionine; Mitochondrial Membrane Transport Proteins; Mutation, Missense; Organic Anion Transporters; Phenotype; Pregnancy; White People

2014
Targeting argininosuccinate synthetase negative melanomas using combination of arginine degrading enzyme and cisplatin.
    Oncotarget, 2015, Mar-20, Volume: 6, Issue:8

    Topics: Animals; Antineoplastic Combined Chemotherapy Protocols; Apoptosis; Arginine; Argininosuccinate Synthase; Cell Line, Tumor; Cisplatin; Citrullinemia; Female; Humans; Hydrolases; Melanoma; Mice; Mice, Inbred BALB C; Mice, Nude; Polyethylene Glycols; Xenograft Model Antitumor Assays

2015
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
    Biochemical and biophysical research communications, 2017, 05-06, Volume: 486, Issue:3

    Topics: Animals; Arginine; Argininosuccinate Synthase; Base Sequence; Cell Differentiation; Citric Acid Cycle; Citrullinemia; Gene Expression Profiling; Gene Expression Regulation; Hepatocytes; Humans; Induced Pluripotent Stem Cells; Karyotyping; Metabolome; Mice; Mice, Inbred NOD; Models, Biological; Primary Cell Culture; Signal Transduction; Urea

2017
Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.
    Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2

    Topics: Administration, Oral; Adolescent; Arginine; Biomarkers; Citrullinemia; Diet, Carbohydrate-Restricted; Drug Therapy, Combination; Female; Humans; Mitochondrial Membrane Transport Proteins; Mutation; Pyruvic Acid; Treatment Outcome

2008
Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.
    Internal medicine (Tokyo, Japan), 2010, Volume: 49, Issue:3

    Topics: Arginine; Citrullinemia; Diet, Protein-Restricted; Dietary Supplements; Gene Deletion; Hepatic Encephalopathy; Humans; Hyperammonemia; Male; Middle Aged; Mitochondrial Membrane Transport Proteins

2010
Two hypomorphic alleles of mouse Ass1 as a new animal model of citrullinemia type I and other hyperammonemic syndromes.
    The American journal of pathology, 2010, Volume: 177, Issue:4

    Topics: Alleles; Animals; Arginine; Argininosuccinate Synthase; Blotting, Western; Cell Movement; Cerebellum; Citrullinemia; Developmental Disabilities; Disease Models, Animal; Female; Growth Disorders; Humans; Hyperammonemia; Immunoenzyme Techniques; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Mutant Strains; Mutation, Missense; Nitric Oxide; Phenotype; Sodium Benzoate; Syndrome

2010
Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Administration, Oral; Arginine; Biomarkers; Cells, Cultured; Citrullinemia; Diagnosis, Differential; Diet, Protein-Restricted; Drug Therapy, Combination; Female; Glucose; Humans; Infant; Infusions, Intravenous; Liver Failure, Acute; Liver Transplantation; Male; Predictive Value of Tests; Sodium Benzoate; Treatment Outcome; Unnecessary Procedures

2010
A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine.
    Clinical neurology and neurosurgery, 2013, Volume: 115, Issue:8

    Topics: Aged; Ammonia; Arginine; Blood Chemical Analysis; Citrullinemia; Consciousness Disorders; Female; Humans; Magnetic Resonance Imaging; Pyruvic Acid

2013
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.
    Prenatal diagnosis, 2002, Volume: 22, Issue:6

    Topics: Amniocentesis; Amniotic Fluid; Arginine; Argininosuccinate Synthase; Chorionic Villi Sampling; Citrulline; Citrullinemia; Female; Humans; Ornithine; Pregnancy; Sensitivity and Specificity

2002
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers: a method for identifying cancers sensitive to arginine deprivation.
    Cancer, 2004, Feb-15, Volume: 100, Issue:4

    Topics: Arginine; Argininosuccinate Synthase; Biopsy; Citrullinemia; Humans; Immunohistochemistry; Neoplasms; Pharmacogenetics; Tumor Cells, Cultured

2004
Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

    Topics: Adult; Arginine; Citrulline; Citrullinemia; Citrullus; Developmental Disabilities; Diet; Female; Humans; Infant; Models, Biological; Nutritional Requirements; Urea

2005
Elevated plasma concentrations of the endogenous nitric oxide synthase inhibitor asymmetric dimethylarginine in citrullinemia.
    Metabolism: clinical and experimental, 2006, Volume: 55, Issue:12

    Topics: Arginine; Citrullinemia; Enzyme Inhibitors; Humans; Nitric Oxide; Nitric Oxide Synthase

2006
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
    Pediatric nephrology (Berlin, Germany), 1999, Volume: 13, Issue:9

    Topics: Amino Acids; Arginine; Child; Chromatography, Gas; Citrulline; Citrullinemia; Creatinine; Glutamine; Humans; Male; Ornithine; Orotic Acid; Quaternary Ammonium Compounds; Time Factors

1999