Compounds > citrulline

citrulline and Citrullinemia

citrulline has been researched along with Citrullinemia in 55 studies

Research

Studies (55)

TimeframeStudies, this research(%)All Research%
pre-19902 (3.64)18.7374
1990's1 (1.82)18.2507
2000's19 (34.55)29.6817
2010's24 (43.64)24.3611
2020's9 (16.36)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
Chang, KL; Chen, HA; Chiang, YC; Chien, YH; Chiu, PC; Hsu, RH; Huang, YC; Hwu, WL; Lee, NC1
Chen, HA; Chen, YH; Chiang, SC; Chien, YH; Chiu, PC; Hsu, LW; Hsu, RH; Hwu, WL; Lee, NC1
Amanto, FA; Decundo, JM; Dieguez, SN; Martínez, G; Pérez Gaudio, DS; Soraci, AL1
Cai, Y; Jiang, M; Li, X; Lin, Y; Liu, L; Liu, Z; Lu, Z; Peng, M; Shao, Y; Zhang, W1
Garbade, SF; Gleich, F; Gropman, AL; Hoffmann, GF; Kölker, S; Nagamani, SCS; Posset, R; Stützenberger, N; Zielonka, M1
Bogdańska, A; Ciara, E; Jankowska, I; Jurkiewicz, D; Lipiński, P; Płoski, R; Rokicki, D; Socha, P; Stradomska, T; Tylki-Szymańska, A; Więcek, S1
Delmônego, L; Delwing-Dal Magro, D; Delwing-de Lima, D; Lima, AB; Maia, TP; Pscheidt, LC; Vincenzi, KL1
Delmonego, L; Delwing-Dal Magro, D; Delwing-de Lima, D; Eger, L; Lima, AB; Maia, TP; Pscheidt, LC; Vincenzi, KL1
Cao, D; Chen, C; Chen, L; Chen, X; Hu, X; Kong, F; Li, J; Li, X; Liu, O; Liu, S; Luo, J; Luo, T; Luo, W; Luo, Z; Ma, D; Ming, Z; Peng, K; Wen, M; Xia, L; Xie, Y; Xu, N; Yang, C; Yi, W; Zou, Z1
Castro-Sousa, F; Costa, BP; Grazina, M; Martins, P; Pimentel, J; Simões, M; Tomé, M; Verissimo, C1
Ceylaner, S; Kör, D; Önenli-Mungan, N; Şeker-Yılmaz, B; Tümgör, G1
Burgard, P; Cederbaum, S; Cuthbertson, D; Holbert, A; McCarter, R; Waisbren, SE1
Gong, X; Shen, Y; Sun, J; Yan, C1
Eto, K; Funahashi, A; Furuie, S; Furukawa, T; Gao, Q; Horiuchi, M; Kadowaki, T; Kuroda, E; Moriyama, M; Nakamura, Y; Saheki, T; Setogawa, Y; Sinasac, DS; Tai, YH; Takano, K; Ushikai, M; Yamamura, KI; Yasuda, I1
Fu, Q; Gao, H; Jiang, M; Lin, W; Lin, Y; Lu, B; Zheng, T; Zhou, S; Zhu, L1
Chandler, RJ; Cusmano-Ozog, K; McGuire, PJ; Sun, Q; Sutton, VR; Tarasenko, TN; Venditti, CP1
Elsea, SH; Fang, P; Grund, JE; Miller, MJ; Soler-Alfonso, CR; Sun, Q; Sutton, VR1
Chol, K; Huang, X; Kimani, JK; Li, Y; Qi, M; Wei, T; Ye, S; Yu, P1
Hamaoka, S; Naito, Y; Shibata, M; Shimada, T; Yamasaki, M1
Avdjieva-Tzavella, DM; Ivanova, MB; Kathom, HM; Lazarova, EA; Panteleeva, EI; Tincheva, RS; Tincheva, SS; Todorov, TP; Todorova, AP; Yaneva, PG1
Diez-Fernandez, C; Fingerhut, R; Gemperle, C; Häberle, J; Rüfenacht, V; Wellauer, O1
Ascah, A; Authier, S; Bujold, K; Donini, O; Hartman, D; Hauer-Jensen, M; Hendrickson, HP; Naraghi, H; Pouliot, M; Pugsley, MK; Rumage, A; Sebastian, M; Stamatopoulos, J; Wong, K1
Arslan, N; Bulbul, S; Gunduz, M; Häberle, J; Kose, E; Unal, O1
Cederbaum, S; Dimmock, DP; Fang, P; Feigenbaum, A; Gambello, MJ; Gibson, J; Keegan, CE; O'Brien, WE; Rice, GM; Trapane, P; Vaux, K; Ward, P; Wolff, JA1
Cheng, PN; Choi, SC; Chong, HC; Chow, TL; Kwok, SY; Lam, TL; Leung, YC; Lo, WH; Poon, RT; Wheatley, DN; Wong, GK1
Allard, P; Debray, FG; Lambert, M; Mitchell, GA1
Kobayashi, K; Ngu, HL; Zabedah, MY1
Box, T; Byrne, J; Longo, N; Salek, J; Sussman, N1
Balasubramaniam, S; Chew, HB; Hanifah, MJ; Keng, WT; Kobayashi, K; Ngu, LH; Zabedah, MY1
Baruteau, J; de Baulny, HO; Faghfoury, H; Häberle, J; Schulze, A1
Glamuzina, E; Knoll, D; Love, DR; Marquis-Nicholson, R; Wilson, C1
Albrecht, U; Haberlandt, E; Häberle, J; Karall, D; Rostasy, K; Scholl-Bürgi, S1
Go, H; Hashimoto, K; Hosoya, M; Imamura, T; Momoi, N; Ogasawara, K; Sakamoto, O; Takubo, N1
Jin, DK; Ki, CS; Kim, JW; Lee, DH; Lee, SY; Lee, YW; Park, HD; Park, WS; Song, J; Woo, HI1
Aupetit, J; Bardet, J; Blanc, A; Chabli, A; Chadefaux-Vekemans, B; Kamoun, P; Rabier, D1
Arslan-Kirchner, M; Battini, R; Briones, P; Cardo, E; Garritsen, VH; Huijmans, JG; Kleijer, WJ; Koch, HG; Linnebank, M; Mandel, H; Mooyer, P; Mustonen, A; Simola, KO; Tschiedel, E; Wanders, RJ1
Au, WL; Koh, PL; Lim, MS; Lim, TC; Loh, NK; Seow, DC; Tan, IK; Yee, WC1
Ban, K; Hashimoto, T; Ito, T; Kidouchi, K; Sumi, S; Togari, H; Ueta, A; Wada, Y1
FREYCON, F; FREYCON, MT1
MCMURRAY, WC; MOHYUDDIN, F; RATHBUN, JC1
Berning, C; Häberle, J; Koch, HG; Pauli, S; Schmidt, E; Schulze-Eilfing, B1
Yazaki, M1
Brennan, B; Gao, HZ; Kobayashi, K; Potter, MA; Saheki, T; Tabata, A; Whelan, DT; Zeesman, S1
Izkovitch, S; Korman, SH; Levy, N; Mandel, H1
Dutra Filho, CS; Pederzolli, CD; Prestes, CC; Sgaravatti, AM; Sgarbi, MB; Wajner, M; Wannmacher, CM; Wyse, AT; Zorzi, GK1
Jin, DK; Ki, CS; Kim, IS; Kim, JW; Lee, M; Lee, SY1
Au, WL; Lim, CC; Wong, YC; Xu, M; Ye, J1
Sass, JO; Skladal, D1
Kobayashi, K; Maruyama, H; Nishio, T; Ogawa, M; Saheki, T; Sunohara, N2
Ban, K; Hashimoto, T; Kobayashi, K; Sugiyama, K; Sugiyama, N; Suzuki, T; Wada, Y1
Chou, SP; Hu, YH; Hwu, WL; Kobayashi, K; Saheki, T; Wang, JH; Yamaguchi, N1
Hashikura, Y; Ikeda, S; Ikegami, T; Iwai, M; Kawasaki, S; Kobayashi, K; Saheki, T; Takei, Y; Yazaki, M1
Iseki, K; Kobayashi, K; Kochinda, T; Komine, Y; Muratani, H; Oshiro, S; Saheki, T; Takishita, S; Tana, T; Yamazato, M1

Reviews

3 review(s) available for citrulline 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
[CITRULLINURIA].
    Pediatrie, 1963, Volume: 18

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Citrulline; Citrullinemia; Humans; Infant; Intellectual Disability; Kidney; Renal Aminoacidurias; Urologic Diseases

1963
[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

Other Studies

52 other study(ies) available for citrulline and Citrullinemia

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
Asymptomatic ASS1 carriers with high blood citrulline levels.
    Molecular genetics & genomic medicine, 2022, Volume: 10, Issue:9

    Topics: Argininosuccinate Synthase; Citrulline; Citrullinemia; Heterozygote; Humans; Infant, Newborn; Retrospective Studies

2022
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test.
    Molecular genetics and metabolism, 2022, Volume: 136, Issue:4

    Topics: Citrulline; Citrullinemia; Humans; Infant, Newborn; Mitochondrial Membrane Transport Proteins; Mutation; Neonatal Screening

2022
Citrullinemia is a suitable biomarker for post weaning performance in piglets under intensive farming.
    Journal of the American Veterinary Medical Association, 2023, 06-01, Volume: 261, Issue:6

    Topics: Animal Husbandry; Animals; Biomarkers; Citrulline; Citrullinemia; Farms; Female; Hydrocortisone; Pregnancy; Swine; Swine Diseases; Weaning; Weight Gain

2023
Features of liver injury in 138 Chinese patients with NICCD.
    Journal of pediatric endocrinology & metabolism : JPEM, 2023, Dec-15, Volume: 36, Issue:12

    Topics: Cholestasis, Intrahepatic; Citrulline; Citrullinemia; East Asian People; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Tyrosine

2023
Early prediction of phenotypic severity in Citrullinemia Type 1.
    Annals of clinical and translational neurology, 2019, Volume: 6, Issue:9

    Topics: Animals; Argininosuccinate Synthase; Chlorocebus aethiops; Citrulline; Citrullinemia; COS Cells; Genotype; Humans; Hyperammonemia; Models, Theoretical; Mutation; Phenotype; Prognosis; Severity of Illness Index

2019
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
    Acta biochimica Polonica, 2020, May-21, Volume: 67, Issue:2

    Topics: Blood Coagulation Disorders; Cholagogues and Choleretics; Cholestasis, Intrahepatic; Citrulline; Citrullinemia; Early Diagnosis; Exome Sequencing; Follow-Up Studies; Humans; Hypoalbuminemia; Infant; Infant, Low Birth Weight; Infant, Newborn; Jaundice, Obstructive; Male; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry; Treatment Outcome; Ursodeoxycholic Acid; Vitamins

2020
Effects of resveratrol on alterations in cerebrum energy metabolism caused by metabolites accumulated in type I citrullinemia in rats.
    Naunyn-Schmiedeberg's archives of pharmacology, 2021, Volume: 394, Issue:5

    Topics: Ammonia; Animals; Cerebellum; Cerebral Cortex; Citrulline; Citrullinemia; Disease Models, Animal; Dose-Response Relationship, Drug; Energy Metabolism; Free Radical Scavengers; Hippocampus; Male; Rats; Rats, Wistar; Resveratrol

2021
Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats.
    Metabolic brain disease, 2021, Volume: 36, Issue:4

    Topics: Ammonia; Animals; Antioxidants; Brain; Citrulline; Citrullinemia; Dose-Response Relationship, Drug; Male; Neuroprotective Agents; Oxidative Stress; Rats; Rats, Wistar; Resveratrol

2021
Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.
    Nature communications, 2021, 04-15, Volume: 12, Issue:1

    Topics: Adult; Aged; Animals; Argininosuccinate Synthase; Aspartic Acid; Breast; Breast Neoplasms; Cell Line, Tumor; Cell Proliferation; Citrulline; Citrullinemia; Enzyme Activators; Female; Gene Knockdown Techniques; Gene Knockout Techniques; HEK293 Cells; Humans; Macrolides; Metabolomics; Mice; Middle Aged; Molecular Docking Simulation; Mutation; Protein Binding; Pyrimidines; Recombinant Proteins; Tumor Suppressor Proteins; Xenograft Model Antitumor Assays

2021
Intestinal dysfunction in the critical trauma patients - An early and frequent event.
    Nutricion hospitalaria, 2017, Mar-30, Volume: 34, Issue:2

    Topics: Adult; Aged; Aged, 80 and over; Amino Acids; Citrulline; Citrullinemia; Cohort Studies; Critical Illness; Female; Humans; Intestinal Diseases; Male; Middle Aged; Prevalence; Prospective Studies; Wounds and Injuries; Young Adult

2017
p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.
    The Turkish journal of pediatrics, 2017, Volume: 59, Issue:3

    Topics: Child; Citrulline; Citrullinemia; High-Throughput Nucleotide Sequencing; Humans; Infant; Infant Formula; Jaundice, Neonatal; Male; Mitochondrial Membrane Transport Proteins; Mutation, Missense; Serine; Threonine; Turkey

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
[Identification of a homozygous ASS1 mutation in a child with citrullinemia type Ⅰ with high-melting curve method].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2018, Jun-10, Volume: 35, Issue:3

    Topics: Argininosuccinate Synthase; Base Sequence; Citrulline; Citrullinemia; Exons; Heterozygote; Homozygote; Humans; Infant, Newborn; Introns; Mutation; RNA Splicing; Transition Temperature

2018
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
    Scientific reports, 2019, 03-12, Volume: 9, Issue:1

    Topics: Amino Acids; Ammonia; Ammonium Chloride; Animals; Aspartic Acid; Citrulline; Citrullinemia; Disease Models, Animal; Glycerolphosphate Dehydrogenase; Hyperammonemia; Intestine, Small; Lactates; Liver; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Membrane Transport Proteins; Organ Specificity; Ornithine; Perfusion; Portal Vein; Pyruvic Acid; Urea

2019
Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1.
    Gene therapy, 2013, Volume: 20, Issue:12

    Topics: Ammonia; Animals; Argininosuccinate Synthase; Citrulline; Citrullinemia; Dependovirus; Disease Models, Animal; Genetic Therapy; Genetic Vectors; Humans; Liver; Mice; Organ Specificity; Phenotype; Thyroxine-Binding Globulin

2013
Improved standards for prenatal diagnosis of citrullinemia.
    Molecular genetics and metabolism, 2014, Volume: 112, Issue:3

    Topics: Adult; Amniotic Fluid; Argininosuccinate Synthase; Citrulline; Citrullinemia; Enzyme Activation; Female; Fetus; Humans; Male; Mutation; Pregnancy; Prenatal Diagnosis; Retrospective Studies

2014
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
    Clinica chimica acta; international journal of clinical chemistry, 2015, Jan-01, Volume: 438

    Topics: Adenosine Triphosphate; Amino Acid Sequence; Argininosuccinate Synthase; Base Sequence; Citrulline; Citrullinemia; Exons; Female; Humans; Infant; Introns; Male; Models, Molecular; Molecular Sequence Data; Mutation; Pedigree; Protein Binding; RNA Splicing

2015
[A case of adult-onset type II citrullinemia (CTLN2) triggered by an overseas travel].
    Rinsho shinkeigaku = Clinical neurology, 2014, Volume: 54, Issue:9

    Topics: Adult; Amino Acids, Branched-Chain; Biomarkers; Citrulline; Citrullinemia; Diagnosis, Differential; Diet; Electroencephalography; Feeding Behavior; Hepatic Encephalopathy; Humans; Liver Transplantation; Male; Nuts; Travel; Treatment Outcome

2014
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
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.
    Journal of medical genetics, 2016, Volume: 53, Issue:10

    Topics: Argininosuccinate Synthase; Aspartic Acid; Catalytic Domain; Citrulline; Citrullinemia; Humans; Kinetics; Mutation, Missense

2016
Citrulline as a Biomarker for Gastrointestinal-Acute Radiation Syndrome: Species Differences and Experimental Condition Effects.
    Radiation research, 2016, Volume: 186, Issue:1

    Topics: Acepromazine; Acute Radiation Syndrome; Animals; Biomarkers; Citrulline; Citrullinemia; Eating; Gastrointestinal Diseases; Ketamine; Mice; Species Specificity; Swine; Swine, Miniature

2016
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
    Clinical biochemistry, 2017, Volume: 50, Issue:12

    Topics: Age of Onset; Ammonia; Argininosuccinate Synthase; Child; Child, Preschool; Citrulline; Citrullinemia; Gene Expression; Genes, Recessive; Genotype; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Mutation; Pedigree; Phenotype; Retrospective Studies

2017
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
    American journal of medical genetics. Part A, 2008, Nov-15, Volume: 146A, Issue:22

    Topics: Adolescent; Argininosuccinate Synthase; Child; Child, Preschool; Citrulline; Citrullinemia; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Pregnancy; Pregnancy Complications

2008
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest.
    Cancer letters, 2009, May-08, Volume: 277, Issue:1

    Topics: Animals; Antineoplastic Agents; Arginase; Carcinoma, Hepatocellular; Cell Cycle; Cell Line, Tumor; Cell Proliferation; Citrulline; Citrullinemia; Cyclin-Dependent Kinase 2; Cyclins; Humans; Liver Neoplasms; Mice; Ornithine Carbamoyltransferase Deficiency Disease; Recombinant Proteins; Xenograft Model Antitumor Assays

2009
Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.
    Journal of child neurology, 2010, Volume: 25, Issue:8

    Topics: Adult; Argininosuccinate Synthase; Biomarkers; Child, Preschool; Citrulline; Citrullinemia; Cohort Studies; DNA Mutational Analysis; Female; Genetic Testing; Genotype; Humans; Infant; Leigh Disease; Male

2010
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
    The Malaysian journal of pathology, 2010, Volume: 32, Issue:1

    Topics: Child; Child, Preschool; Cholestasis, Intrahepatic; Citrulline; Citrullinemia; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Malaysia; Male; Mitochondrial Membrane Transport Proteins; Mutagenesis, Insertional; Polymerase Chain Reaction

2010
Recurrent liver failure in a 25-year-old female.
    Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2010, Volume: 16, Issue:9

    Topics: Adult; Argininosuccinate Synthase; Biomarkers; Citrulline; Citrullinemia; Diagnostic Errors; Diet, Protein-Restricted; DNA Mutational Analysis; Female; Hepatolenticular Degeneration; Humans; Liver Failure, Acute; Liver Function Tests; Mutation; Pregnancy; Recurrence; Treatment Outcome; Up-Regulation

2010
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Asian People; Biomarkers; Citrulline; Citrullinemia; DNA Mutational Analysis; Exons; Fatal Outcome; Female; Genetic Predisposition to Disease; Heredity; Humans; Infant; Infant, Newborn; Jaundice, Obstructive; Liver Failure; Malaysia; Male; Mitochondrial Membrane Transport Proteins; Mutation; Pedigree; Phenotype; Prognosis; Time Factors

2010
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
    Molecular genetics and metabolism, 2011, Volume: 102, Issue:4

    Topics: Ammonia; Argininosuccinate Synthase; Base Sequence; Citrulline; Citrullinemia; Fatty Liver; Female; Humans; Infant; International Normalized Ratio; Liver; Liver Failure, Acute; Male; Molecular Sequence Data; Mutagenesis, Insertional; Mutation, Missense; RNA Splice Sites; Seizures; Transaminases; Ultrasonography; Vomiting

2011
Citrullinaemia type I: a common mutation in the Pacific Island population.
    Journal of paediatrics and child health, 2011, Volume: 47, Issue:5

    Topics: Argininosuccinate Synthase; Citrulline; Citrullinemia; Founder Effect; Genetic Testing; Humans; Infant, Newborn; Male; Mutation; Pacific Islands

2011
Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol.
    Neuropediatrics, 2012, Volume: 43, Issue:2

    Topics: Adolescent; Argininosuccinate Synthase; Citrulline; Citrullinemia; Diagnosis, Differential; Encephalitis; Humans; Male; Spinal Puncture

2012
Successful prospective management of neonatal citrullinemia.
    Journal of pediatric endocrinology & metabolism : JPEM, 2012, Volume: 25, Issue:3-4

    Topics: Adult; Ammonia; Anti-Infective Agents; Argininosuccinate Synthase; Base Sequence; Benzoates; Citrulline; Citrullinemia; Disease Management; Female; Humans; Infant, Newborn; Injections, Intravenous; Molecular Sequence Data; Mutation; Pregnancy; Pregnancy Complications; Prenatal Diagnosis; Prognosis; Prospective Studies; Renal Dialysis; Sequence Homology, Nucleic Acid

2012
Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.
    Clinical biochemistry, 2013, Volume: 46, Issue:3

    Topics: Age of Onset; Alleles; Amino Acid Substitution; Argininosuccinate Synthase; Asian People; Citrulline; Citrullinemia; Exons; Female; Genetic Association Studies; Genetics, Population; Genotype; Gestational Age; Humans; Infant, Newborn; Male; Mutation Rate; Mutation, Missense; Neonatal Screening; Phenotype; Republic of Korea

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
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:5

    Topics: Adult; Argininosuccinate Lyase; Argininosuccinic Acid; Child; Citrulline; Citrullinemia; Fibroblasts; Humans; Infant; Infant, Newborn; Male; Prenatal Diagnosis

2002
Serial diffusion-weighted magnetic resonance imaging in adult-onset citrullinaemia.
    Journal of the neurological sciences, 2003, May-15, Volume: 209, Issue:1-2

    Topics: Adult; Ammonia; Argininosuccinic Acid; Brain; Citrulline; Citrullinemia; Coma; Diagnosis, Differential; Disease Progression; Fatty Liver; Humans; Magnetic Resonance Imaging; Male; Recurrence; Remission, Spontaneous; Substance-Related Disorders; Ultrasonography

2003
Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1

    Topics: Allopurinol; Antimetabolites; Child; Chromatography, High Pressure Liquid; Citrulline; Citrullinemia; Female; Humans; Liver Transplantation; Living Donors

2003
CITRULLINURIA.
    Revista de neuro-psiquiatria, 1964, Volume: 27

    Topics: Amino Acid Metabolism, Inborn Errors; Citrulline; Citrullinemia; Clinical Enzyme Tests; Humans; Infant; Intellectual Disability; Ligases; Metabolism; Urea

1964
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).
    Molecular genetics and metabolism, 2003, Volume: 80, Issue:3

    Topics: Alleles; Argininosuccinate Synthase; Citrulline; Citrullinemia; Genetic Testing; Genetic Variation; Humans; Infant, Newborn; Mass Spectrometry; Mutation; Sequence Analysis, DNA; White People

2003
Pregnancy in a healthy woman with untreated citrullinemia.
    American journal of medical genetics. Part A, 2004, Aug-15, Volume: 129A, Issue:1

    Topics: Adult; Argininosuccinate Synthase; Citrulline; Citrullinemia; Female; Humans; Mutation, Missense; Pregnancy; Pregnancy Complications; Pregnancy Outcome

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
Citrulline and ammonia accumulating in citrullinemia reduces antioxidant capacity of rat brain in vitro.
    Metabolic brain disease, 2006, Volume: 21, Issue:1

    Topics: Ammonia; Animals; Antioxidants; Catalase; Cerebral Cortex; Citrulline; Citrullinemia; Enzyme Activation; Glutathione Peroxidase; Hydrogen Peroxide; In Vitro Techniques; Lipid Peroxidation; Oxidative Stress; Rats; Rats, Wistar; Sulfhydryl Compounds; Superoxide Dismutase; Thiobarbituric Acid Reactive Substances

2006
Characterization of late-onset citrullinemia 1 in a Korean patient: confirmation by argininosuccinate synthetase gene mutation analysis.
    Journal of biochemistry and molecular biology, 2006, Jul-31, Volume: 39, Issue:4

    Topics: Argininosuccinate Synthase; Brain; Citrulline; Citrullinemia; DNA Mutational Analysis; Exons; Female; Gene Duplication; Humans; Infant; Korea; Male; Mutation, Missense; Seizures

2006
Magnetic resonance spectroscopy in adult-onset citrullinemia: elevated glutamine levels in comatose patients.
    Archives of neurology, 2007, Volume: 64, Issue:7

    Topics: Adult; Ammonia; Biomarkers; Brain; Brain Mapping; Cerebral Cortex; Choline; Citrulline; Citrullinemia; Coma; Diffusion Magnetic Resonance Imaging; Disease Progression; Early Diagnosis; Fatal Outcome; Glutamic Acid; Glutamine; Gyrus Cinguli; Humans; Hyperammonemia; Inositol; Magnetic Resonance Spectroscopy; Male; Predictive Value of Tests

2007
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
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels.
    Journal of the neurological sciences, 2001, Jan-01, Volume: 182, Issue:2

    Topics: Ammonia; Biomarkers; Brain; Cerebrovascular Circulation; Citrulline; Citrullinemia; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Serine; Threonine; Trypsin Inhibitor, Kazal Pancreatic

2001
A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation.
    Transplantation, 2001, May-27, Volume: 71, Issue:10

    Topics: Child; Citrulline; Citrullinemia; Female; Humans; Hyperammonemia; Liver Transplantation; Living Donors; Postoperative Period; Quality of Life

2001
A Chinese adult onset type II citrullinaemia patient with 851del4/1638ins23 mutations in the SLC25A13 gene.
    Journal of medical genetics, 2001, Volume: 38, Issue:7

    Topics: Adult; Age of Onset; Ammonia; Calcium-Binding Proteins; China; Citrulline; Citrullinemia; DNA Mutational Analysis; Female; Humans; Kidney Failure, Chronic; Liver; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutagenesis, Insertional; Mutation; Sequence Deletion

2001
Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.
    Journal of neurology, neurosurgery, and psychiatry, 2001, Volume: 71, Issue:5

    Topics: Adolescent; Adult; Ammonia; Brain; Brain Edema; Citrulline; Citrullinemia; Cognition Disorders; Coma; Consciousness Disorders; Electroencephalography; Female; Hepatic Encephalopathy; Humans; Liver Transplantation; Magnetic Resonance Imaging; Male; Middle Aged; Neuropsychological Tests; Severity of Illness Index; Tomography, Emission-Computed, Single-Photon; Tomography, X-Ray Computed; Treatment Outcome

2001
Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.
    Journal of the neurological sciences, 2001, Dec-15, Volume: 193, Issue:1

    Topics: Calcium-Binding Proteins; Citrulline; Citrullinemia; Diagnosis, Differential; DNA Mutational Analysis; Exons; Gene Deletion; Heterozygote; Humans; Male; Membrane Transport Proteins; Middle Aged; Mitochondria, Liver; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins; Mutation

2001
A patient with adult-onset type II citrullinemia on long-term hemodialysis: reversal of clinical symptoms and brain MRI findings.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2002, Volume: 39, Issue:1

    Topics: Adult; Ammonia; Brain; Citrulline; Citrullinemia; Diagnosis, Differential; Female; Humans; Magnetic Resonance Imaging; Polycystic Kidney Diseases; Renal Dialysis; Time Factors

2002