Compounds > citrulline

citrulline and Hyperammonemia

citrulline has been researched along with Hyperammonemia in 51 studies

Research

Studies (51)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's28 (54.90)29.6817
2010's19 (37.25)24.3611
2020's4 (7.84)2.80

Authors

AuthorsStudies
Ba, Y; Cao, Y; Gao, RW; Wu, BB; Yang, L; Zhang, R; Zhou, JG; Zhou, WH1
Li, Y; Liu, XF; Lu, JJ; Qiang, JW; Yang, XY1
Garbade, SF; Gleich, F; Gropman, AL; Hoffmann, GF; Kölker, S; Nagamani, SCS; Posset, R; Stützenberger, N; Zielonka, M1
Artuch, R; Bodoy, S; Espino-Guarch, M; Ormazabal, A; Palacín, M; Sebastio, G; Sotillo, F; Sperandeo, MP; Zorzano, A1
Caldovic, L; Haskins, N; McNutt, M; Morizono, H; Senkevitch, E; Sonaimuthu, P; Tuchman, M; Uapinyoying, P1
Billingham, MJ; Rizk, R1
Banushi, B; Baruteau, J; Buckley, SMK; Diaz, JA; Gissen, P; Hanley, J; Heales, S; Howe, SJ; Hristova, M; Hughes, MP; Karda, R; Lorvellec, M; Mills, PB; Ng, J; Perocheau, DP; Prunty, H; Rahim, AA; Ridout, DA; Rocha-Ferreira, E; Suff, N; Virasami, A; Waddington, SN1
Arenas, YM; Cabrera-Pastor, A; Felipo, V; Montoliu, C; Taoro-Gonzalez, L1
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
Birk, OS; Ferreira, CR; Manor, E; Staretz-Chacham, O; Wormser, O1
Bellantuono, R; Bellino, V; De Palo, T; Favia, V; Morrone, A; Papadia, F; Ranieri, A; Tummolo, A1
Busanello, EN; Grings, M; Leipnitz, G; Moura, AP; Tonin, AM; Viegas, CM; Wajner, M; Zanatta, A1
DU, K; Jin, HY; Liu, WP; Luan, Z; Qu, SQ; Wang, ZY; Yang, H; Yang, YX1
Gao, X; Gong, Z; Gu, X; Han, F; Han, L; Jin, J; Qiu, W; Wang, Y; Ye, J; Zhang, H1
Amaral, AU; Quincozes-Santos, A; Rodrigues, MD; Souza, DG; Wajner, M; Zanatta, Â1
Chang, CK; Chen, IF; Wu, CL; Yang, CC1
Debray, FG; Drouin, R; Dubé, J; Fenyves, D; Laframboise, R; Lambert, M; Lemieux, B; Maranda, B; Mitchell, GA; Soucy, JF1
Aldamiz-Echevarría, L; Baumgartner, MR; Besley, G; Chien, YH; de Baulny, HO; Deodato, F; Dionisi-Vici, C; Fiermonte, G; Hernandez, JM; Loguercio, C; Martinez-Hernandez, E; Melone, MA; Nassogne, MC; Palmieri, F; Paradies, E; Parenti, G; Pierri, CL; Rutledge, SL; Santorelli, FM; Scarano, G; Schiff, M; Tessa, A; Vilaseca, MA; Walter, J1
Boenzi, S; Capozzi, P; Dionisi-Vici, C; Morini, C; Rizzo, C; Santorelli, FM1
Amaral, AU; Dutra-Filho, CS; Fernandes, CG; Leipnitz, G; Seminotti, B; Viegas, CM; Wajner, M; Zanatta, A1
Busanello, EN; de Moura, AP; Ferreira, Gda C; Grings, M; Ritter, L; Schuck, PF; Sitta, A; Tonin, AM; Vargas, CR; Viegas, CM; Wajner, M1
Aires, CC; de Almeida, IT; Duran, M; Ijlst, L; Silva, MF; van Cruchten, A; Wanders, RJ1
Mhanni, AA; Prasad, C; Rockman-Greenberg, C1
Erez, A; Lee, B; Nagamani, SC1
Boix, J; Cabrera-Pastor, A; Felipo, V; Llansola, M; Reznikov, V1
Choi, DE; Lee, KW; Na, KR; Shin, YT1
Agustí, A; Cauli, O; Felipo, V; González-Usano, A1
Antuzzi, D; Arcangeli, A; Conti, G; Gaspari, R; Mensi, S; Proietti, R; Tartaglione, T; Wismayer, DS1
David, L; Dionisi-Vici, C; Dolce, V; Fiermonte, G; Palmieri, F; Santorelli, FM; Walker, JE1
Andrade, D; Camacho, JA; Kong, J; Porter, J; Rioseco-Camacho, N1
Bachmann, C1
Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S1
Baumgartner, MR; Dufier, JL; Kamoun, P; Nassogne, MC; Padovani, JP; Rabier, D; Saudubray, JM; Valle, D1
Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE1
Andria, G; Carbone, MT; Correra, A; Della Casa, R; Dionisi-Vici, C; Fecarotta, S; Parenti, G; Riva, S; Santorelli, FM; Torre, G; Vajro, P; Zuppaldi, A1
Au, WL; Lim, CC; Wong, YC; Xu, M; Ye, J1
Abu-Amero, KK; Al-Dirbashi, OY; Al-Hassnan, ZN; Patay, Z; Rahbeeni, Z; Rashed, MS1
Chan, A; Collison, M; Greenberg, CR; Huynh, HQ; Lehotay, DC; Mhanni, AA; Seifert, B; Sokoro, A1
Blanke, CD; Chan, JS; Harding, CO1
Almashanu, S; Aral, B; Baumgartner, MR; Hu, CA; Kamoun, P; Obie, C; Rabier, D; Saudubray, JM; Steel, G; Valle, D1
Cederbaum, SD; Steiner, RD1
Berry, GT; Steiner, RD1
Ban, K; Hashimoto, T; Kobayashi, K; Sugiyama, K; Sugiyama, N; Suzuki, T; Wada, Y1
Gallagher, AC; Pike, M; Standing, S1
Matsuura, T1
Ohura, T; Sakamoto, O1
Bauer, MF; Bieger, I; Gempel, K; Gerbitz, KD; Hofmann, S; Pontz, BF; Stadler, S1
Bertini, E; Boldrini, R; Burlina, AB; Di Capua, M; Dionisi-Vici, C; Donati, A; Fariello, G; Meli, C; Rizzo, C; Salvi, S; Santorelli, FM1
Bertini, E; Dionisi-Vici, C; Salvi, S; Santorelli, FM; Verardo, M1
Kakinuma, H1
Kanazawa, N; Miyamoto, T; Tsujino, S1

Reviews

7 review(s) available for citrulline and Hyperammonemia

ArticleYear
Chronic hyperammonemia alters extracellular glutamate, glutamine and GABA and membrane expression of their transporters in rat cerebellum. Modulation by extracellular cGMP.
    Neuropharmacology, 2019, 12-15, Volume: 161

    Topics: Animals; Cell Membrane; Cerebellum; Citrulline; Cyclic GMP; Extracellular Space; gamma-Aminobutyric Acid; Glutamic Acid; Glutamine; Hyperammonemia; Male; Neurotransmitter Transport Proteins; Rats; Rats, Wistar; Synaptic Transmission

2019
Argininosuccinate lyase deficiency.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2012, Volume: 14, Issue:5

    Topics: Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Cognition Disorders; Diet, Protein-Restricted; Fumarates; Genetic Testing; Glucose; Humans; Hyperammonemia; Hypertension; Infant; Infant, Newborn; Lipids; Liver Diseases; Liver Transplantation; Neonatal Screening; Phenylbutyrates; Sodium Benzoate

2012
Laboratory evaluation of urea cycle disorders.
    The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl

    Topics: Algorithms; Amino Acid Metabolism, Inborn Errors; Citrulline; DNA Mutational Analysis; Humans; Hyperammonemia; Orotic Acid; Urea

2001
[Citrullinemia].
    Ryoikibetsu shokogun shirizu, 2001, Issue:33

    Topics: Argininosuccinate Synthase; Citrulline; Humans; Hyperammonemia

2001
[Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome].
    Ryoikibetsu shokogun shirizu, 2001, Issue:33

    Topics: Citrulline; Humans; Hyperammonemia; Ornithine; Syndrome

2001
[Structure-function relationships of mitochondrial transporters].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Animals; Citrulline; Humans; Hyperammonemia; Intracellular Membranes; Membrane Transport Proteins; Mitochondria; Mitochondrial ADP, ATP Translocases; Mutation; Ornithine; Phosphate Transport Proteins; Syndrome

2002
[Mitochondrial ornithine transporter deficiency].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Amino Acid Transport Systems, Basic; Carrier Proteins; Citrulline; Diagnosis, Differential; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondria; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Prognosis; Proteins; Syndrome

2002

Trials

1 trial(s) available for citrulline and Hyperammonemia

ArticleYear
Prevention of perceptual-motor decline by branched-chain amino acids, arginine, citrulline after tennis match.
    Scandinavian journal of medicine & science in sports, 2017, Volume: 27, Issue:9

    Topics: Adult; Amino Acids, Branched-Chain; Arginine; Citrulline; Dietary Supplements; Fatigue; Humans; Hyperammonemia; Male; Psychomotor Performance; Single-Blind Method; Sports Nutritional Physiological Phenomena; Tennis

2017

Other Studies

43 other study(ies) available for citrulline and Hyperammonemia

ArticleYear
[Neonate-onset ornithine transcarbamylase deficiency].
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2023, Apr-15, Volume: 25, Issue:4

    Topics: Citrulline; Electroencephalography; Humans; Hyperammonemia; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Seizures

2023
The interaction of ammonia and manganese in abnormal metabolism of minimal hepatic encephalopathy: A comparison metabolomics study.
    PloS one, 2023, Volume: 18, Issue:8

    Topics: Alanine; Ammonia; Animals; Arginine; Brain; Citrulline; gamma-Aminobutyric Acid; Glutamic Acid; Glutamine; Hepatic Encephalopathy; Hyperammonemia; Inositol; Isoleucine; Lactic Acid; Leucine; Manganese; Metabolomics; Rats; Rats, Sprague-Dawley; Taurine

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
Inducible
    International journal of molecular sciences, 2019, Oct-24, Volume: 20, Issue:21

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport System y+L; Amino Acids; Animals; Citrulline; Disease Models, Animal; Hyperammonemia; Intestinal Mucosa; Kidney; Mice; Mice, Inbred C57BL; Mice, Knockout; Pulmonary Alveolar Proteinosis

2019
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
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
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
    Nature communications, 2018, 08-29, Volume: 9, Issue:1

    Topics: Animals; Argininosuccinate Lyase; Argininosuccinic Aciduria; Brain Diseases; Citrulline; Genetic Therapy; Hyperammonemia; Liver; Mice; Neurons; Nitric Oxide; Nitrosative Stress

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
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
    American journal of medical genetics. Part A, 2019, Volume: 179, Issue:7

    Topics: Child, Preschool; Citrulline; Electron Transport; Female; Frameshift Mutation; Humans; Hyperammonemia; Infant, Newborn; Male; Membrane Proteins; Mitochondrial Encephalomyopathies; Mitochondrial Proteins; Pedigree

2019
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
    Pediatric emergency care, 2013, Volume: 29, Issue:5

    Topics: Adolescent; Arginine; Brain; Carnitine; Case Management; Citrulline; Coma; Combined Modality Therapy; Drug Therapy, Combination; Electroencephalography; Female; Glutamates; Hemofiltration; Humans; Hyperammonemia; Lethargy; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Renal Dialysis; Tomography, Emission-Computed, Single-Photon; Vomiting

2013
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
[Clinical effect of stem cell transplantation via hepatic artery in the treatment of type II hyperammonemia: a report on 6 cases].
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2013, Volume: 15, Issue:11

    Topics: AC133 Antigen; Ammonia; Antigens, CD; Arginine; Citrulline; Female; Glycoproteins; Hepatic Artery; Humans; Hyperammonemia; Infant; Male; Peptides; Stem Cell Transplantation

2013
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
    Zhonghua yi xue za zhi, 2014, Sep-16, Volume: 94, Issue:34

    Topics: Adolescent; Adult; Child; Child, Preschool; Citrulline; Gas Chromatography-Mass Spectrometry; Humans; Hyperammonemia; Infant; Infant, Newborn; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Tandem Mass Spectrometry; Young Adult

2014
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
Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
    Journal of medical genetics, 2008, Volume: 45, Issue:11

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Child; Child, Preschool; Citrulline; Founder Effect; Homozygote; Humans; Hyperammonemia; Infant; Mutation; Ornithine; Phenotype; Syndrome

2008
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
    Human mutation, 2009, Volume: 30, Issue:5

    Topics: Adult; Amino Acid Transport Systems, Basic; Biological Transport; Child; Child, Preschool; Citrulline; Escherichia coli; Female; Humans; Hyperammonemia; Infant; Infant, Newborn; Male; Middle Aged; Mitochondrial Membrane Transport Proteins; Mutant Proteins; Mutation; Ornithine; Protein Structure, Secondary; Syndrome

2009
Retinal degeneration.
    Ophthalmology, 2009, Volume: 116, Issue:8

    Topics: Adult; Amino Acid Transport Systems, Basic; Cataract; Citrulline; Consanguinity; Creatine; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Retinal Degeneration; Syndrome; Vision Disorders

2009
Evidence that the major metabolites accumulating in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome induce oxidative stress in brain of young rats.
    International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2009, Volume: 27, Issue:7

    Topics: Animals; Antioxidants; Brain; Citrulline; Glutathione; Humans; Hyperammonemia; Lipid Peroxidation; Male; Nitric Oxide; Ornithine; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar; Syndrome; Thiobarbituric Acid Reactive Substances

2009
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
New insights on the mechanisms of valproate-induced hyperammonemia: inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA.
    Journal of hepatology, 2011, Volume: 55, Issue:2

    Topics: Acyl Coenzyme A; Amino-Acid N-Acetyltransferase; Ammonia; Animals; Anticonvulsants; Citrulline; Disease Models, Animal; Glutamates; Glutamine; Humans; Hyperammonemia; In Vitro Techniques; Liver; Male; Mice; Mice, Inbred C57BL; Models, Biological; Rats; Rats, Wistar; Urea; Valproic Acid

2011
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
    Pediatric emergency care, 2011, Volume: 27, Issue:9

    Topics: Abdominal Pain; Alkalosis, Respiratory; Arginine; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child, Preschool; Citrulline; Consciousness Disorders; Diagnosis, Differential; Diet, Protein-Restricted; Emergencies; Exons; Female; Glutamine; Humans; Hyperammonemia; Language Development Disorders; Liver Transplantation; Mutation, Missense; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Recurrence

2011
Differential effects of chronic hyperammonemia on modulation of the glutamate-nitric oxide-cGMP pathway by metabotropic glutamate receptor 5 and low and high affinity AMPA receptors in cerebellum in vivo.
    Neurochemistry international, 2012, Volume: 61, Issue:1

    Topics: alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid; Animals; Blotting, Western; Chronic Disease; Citrulline; Cyclic GMP; Glutamic Acid; Hyperammonemia; Male; Nitric Oxide; Rats; Rats, Wistar; Receptor, Metabotropic Glutamate 5; Receptors, AMPA; Receptors, Metabotropic Glutamate

2012
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.
    Journal of Korean medical science, 2012, Volume: 27, Issue:5

    Topics: Age of Onset; Ammonia; Arginine; Citrulline; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Renal Dialysis; Sodium Benzoate

2012
Hyperammonemia alters the modulation by different neurosteroids of the glutamate-nitric oxide-cyclic GMP pathway through NMDA- GABAA - or sigma receptors in cerebellum in vivo.
    Journal of neurochemistry, 2013, Volume: 125, Issue:1

    Topics: Animals; Cerebellum; Citrulline; Cyclic GMP; Extracellular Space; Glutamic Acid; Hyperammonemia; Male; N-Methylaspartate; Neurotransmitter Agents; Nitric Oxide; Nitric Oxide Synthase Type I; Rats; Rats, Wistar; Receptors, GABA-A; Receptors, N-Methyl-D-Aspartate; Receptors, sigma

2013
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma.
    Annals of emergency medicine, 2003, Volume: 41, Issue:1

    Topics: Adult; Age Factors; Anticonvulsants; Brain; Citrulline; Coma; Diagnosis, Differential; Electroencephalography; Female; Follow-Up Studies; Glasgow Coma Scale; Hemodiafiltration; Humans; Hyperammonemia; Injections, Intravenous; Lorazepam; Magnetic Resonance Imaging; Ornithine Carbamoyltransferase Deficiency Disease; Time Factors; Tomography, X-Ray Computed

2003
The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.
    The Journal of biological chemistry, 2003, Aug-29, Volume: 278, Issue:35

    Topics: Amino Acid Transport Systems, Basic; Arginine; Biological Transport; Carrier Proteins; Citrulline; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Humans; Hyperammonemia; Kinetics; Liposomes; Liver; Lysine; Malates; Membrane Transport Proteins; Mitochondria; Models, Biological; Mutation; Ornithine; Phosphates; Protein Folding; Protein Isoforms; Recombinant Proteins; Reverse Transcriptase Polymerase Chain Reaction; Substrate Specificity; Time Factors; Tissue Distribution; Transcription, Genetic

2003
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.
    Molecular genetics and metabolism, 2003, Volume: 79, Issue:4

    Topics: Amino Acid Sequence; Amino Acid Transport Systems, Basic; Cell Line; Citrulline; Cloning, Molecular; Fibroblasts; Gene Frequency; Humans; Hyperammonemia; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Molecular Sequence Data; Ornithine; Polymorphism, Genetic; Proteins; Syndrome

2003
Long-term outcome of patients with urea cycle disorders and the question of neonatal screening.
    European journal of pediatrics, 2003, Volume: 162 Suppl 1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Argininosuccinic Acid; Child; Citrulline; Diet; False Positive Reactions; Humans; Hyperammonemia; Infant, Newborn; Intellectual Disability; Metabolism, Inborn Errors; Neonatal Screening; Retrospective Studies; Treatment Outcome; Urea

2003
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
    Journal of the neurological sciences, 2004, Mar-15, Volume: 218, Issue:1-2

    Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arabs; Child, Preschool; Citrulline; DNA Mutational Analysis; Exons; Family Health; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Hyperammonemia; Lactic Acid; Male; Mitochondrial Diseases; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Polymerase Chain Reaction; Proteins

2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
    European journal of pediatrics, 2005, Volume: 164, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cataract; Child; Child, Preschool; Citrulline; delta-1-Pyrroline-5-Carboxylate Reductase; Female; Humans; Hyperammonemia; Male; Mutation, Missense; Ornithine; Phenotype; Proline; Pyrroline Carboxylate Reductases

2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Diagnosis, Differential; Female; Fibroblasts; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Neonatal Screening; Ornithine; Ornithine-Oxo-Acid Transaminase; Orotic Acid

2005
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

    Topics: Alanine Transaminase; Amino Acid Transport Systems, Basic; Arginine; Aspartate Aminotransferases; Child, Preschool; Citrulline; Diet, Protein-Restricted; Hepatitis; Humans; Hyperammonemia; Liver; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Proteins; Syndrome

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
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
    Journal of the neurological sciences, 2008, Jan-15, Volume: 264, Issue:1-2

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Citrulline; DNA Mutational Analysis; Female; Food, Formulated; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Hyperammonemia; Magnetic Resonance Imaging; Male; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Saudi Arabia; Sodium Benzoate; Stroke

2008
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.
    Journal of pediatric gastroenterology and nutrition, 2008, Volume: 46, Issue:3

    Topics: Amino Acid Transport Systems, Basic; Citrulline; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Infant; Liver Failure, Acute; Liver Transplantation; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Ornithine; Point Mutation; Syndrome

2008
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
    Southern medical journal, 2008, Volume: 101, Issue:5

    Topics: Adult; Arginine; Carcinoma, Hepatocellular; Citrulline; Female; Glutamine; Hepatic Encephalopathy; Humans; Hyperammonemia; Liver Neoplasms; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Polymorphism, Single-Stranded Conformational; Syndrome

2008
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
    Human molecular genetics, 2000, Nov-22, Volume: 9, Issue:19

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Catalytic Domain; Child; CHO Cells; Citrulline; Cricetinae; DNA Mutational Analysis; Female; Fibroblasts; France; Humans; Hyperammonemia; Male; Mutation; Ornithine; Ornithine-Oxo-Acid Transaminase; Pedigree; Phenotype; Proline; RNA, Messenger; Transfection

2000
Long-term management of patients with urea cycle disorders.
    The Journal of pediatrics, 2001, Volume: 138, Issue:1 Suppl

    Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Dietary Proteins; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Urea

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
HHH syndrome associated with callosal agenesis and disordered neuronal migration.
    Developmental medicine and child neurology, 2001, Volume: 43, Issue:6

    Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Bronchopulmonary Sequestration; Citrulline; Consanguinity; Female; Humans; Hyperammonemia; Infant; Metabolism, Inborn Errors; Ornithine; Phenotype; Syndrome

2001
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:3

    Topics: Amino Acid Sequence; Amino Acids; Ammonia; Arginine; Argininosuccinate Lyase; Argininosuccinic Acid; Argininosuccinic Aciduria; Base Sequence; Citrulline; Coma; Frameshift Mutation; Humans; Hyperammonemia; Infant, Newborn; Mass Spectrometry; Molecular Sequence Data; Neonatal Screening; Ornithine

2001
Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
    Neurology, 2001, Sep-11, Volume: 57, Issue:5

    Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Child; Citrulline; Female; Humans; Hyperammonemia; Male; Mitochondria, Muscle; Mutation; Ornithine; Paraparesis, Spastic; Retrospective Studies

2001
Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
    Human mutation, 2001, Volume: 18, Issue:5

    Topics: Age of Onset; Alleles; Amino Acid Transport Systems, Basic; Base Sequence; Citrulline; DNA Mutational Analysis; Exons; Female; Fibroblasts; Humans; Hyperammonemia; Infant, Newborn; Italy; Male; Metabolism, Inborn Errors; Mitochondrial Membrane Transport Proteins; Mutation; Ornithine; Pedigree; Polymorphism, Restriction Fragment Length; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

2001