ornithine has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 31 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 13 (41.94) | 18.7374 |
| 1990's | 9 (29.03) | 18.2507 |
| 2000's | 3 (9.68) | 29.6817 |
| 2010's | 3 (9.68) | 24.3611 |
| 2020's | 3 (9.68) | 2.80 |
| Authors | Studies |
|---|---|
| Fukui, K; Ishihara, N; Kakuma, T; Matsunari, H; Nagashima, H; Takahashi, T; Uchikura, A; Watanabe, M; Watanabe, Y; Yamashita, Y; Yoshino, M | 1 |
| Cai, YN; Jiang, MY; Li, XZ; Lin, YT; Liu, L; Mei, HF; Peng, MZ; Shao, YX; Sheng, HY; Su, L; Yin, X | 1 |
| Arnoux, JB; Besson, G; Bigot, A; Charriere, S; Damaj, L; Douillard, C; Garnotel, R; Kaphan, E; Lavigne, C; Maillot, F; Mesli, S; Mochel, F; Moreau, C; Noel, E; Odent, S; Redonnet-Vernhet, I; Rigalleau, V; Roubertie, A; Servais, A; Servettaz, A; Spodenkiewicz, M; Toquet, S | 1 |
| Ah Mew, N; Braverman, N; Caldovic, L; Feeney, TP; Jang, YJ; LaBella, AL; Morizono, H; Tuchman, M | 1 |
| Auray-Blais, C; Lavoie, P; Maranda, B | 1 |
| Choi, DE; Lee, KW; Na, KR; Shin, YT | 1 |
| Garlick, PJ; Lee, B; Marini, JC | 1 |
| Castillo, L; Erez, A; Lee, B; Marini, JC | 1 |
| Blanke, CD; Chan, JS; Harding, CO | 1 |
| Brusilow, SW | 1 |
| Briand, P; Cathelineau, L | 1 |
| Batshaw, ML; Brusilow, SW; Walser, M | 1 |
| Akaboshi, I; Katsuki, T; Matsuda, I; Nagata, N; Ohtsuka, H; Yamamoto, J | 1 |
| Gordon, BA; Haust, MD | 1 |
| Nelson, J; Qureshi, IA; Sarma, DS; Vasudevan, S | 1 |
| Donati, MA; Filippi, L; Resti, M; Zammarchi, E | 1 |
| de Martinville, B; Demmer, LA; Dowton, SB; Kim, JM | 1 |
| Fukushige, T; Kakinoki, H; Kobayashi, K; Saheki, T | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| DeMars, R; LeVan, SL; Russell, LB; Trend, BL | 1 |
| Bakker, HD; Desplanque, J; van der Heiden, C | 1 |
| Bakker, HD; Brink, M; de Bree, PK; Desplanque, J; van der Heiden, C; Wadman, SK | 1 |
| Shih, VE | 1 |
| Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB | 1 |
| Shimizu, H | 1 |
| Laframboise, R; Mandell, R; Pichette, J; Shih, VE | 1 |
| Bardet, J; Kamoun, P; Parvy, P; Rabier, D | 1 |
| Inoue, I; Kuno, T; Miyazaki, S; Saheki, T | 1 |
| Benoit, A; Bonnefont, JP; Chekoury, A; Kamoun, P; Petit, F; Rabier, D; Saudubray, JM | 1 |
| Cheung, CW; Cohen, NS; Raijman, L | 1 |
| Bachmann, C; Colombo, JP; Schrämmli, A | 1 |
1 review(s) available for ornithine and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Inborn defects of the mitochondrial portion of the urea cycle.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Animals; Biological Transport, Active; Carbamoyl-Phosphate Synthase (Ammonia); Humans; Metabolism, Inborn Errors; Mitochondria; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1986 |
30 other study(ies) available for ornithine and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism.
Topics: Ammonia; Animals; Fibroblasts; Glutamate Dehydrogenase; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Swine | 2022 |
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Ammonia; Arginine; Child; Child, Preschool; China; Creatine; Female; Humans; Hyperammonemia; Lysine; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea; Young Adult | 2020 |
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
Topics: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Argininosuccinic Aciduria; Female; France; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies; Sex Factors; Urea Cycle Disorders, Inborn; Young Adult | 2021 |
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Topics: Binding Sites; Enhancer Elements, Genetic; Gene Expression Regulation; Hepatocyte Nuclear Factor 4; Humans; Male; Mutation; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Promoter Regions, Genetic; Prospective Studies; Retrospective Studies | 2018 |
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Paper; Reference Values; Reproducibility of Results; Tandem Mass Spectrometry; Uracil; Urea Cycle Disorders, Inborn; Urinalysis | 2014 |
Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency.
Topics: Age of Onset; Ammonia; Arginine; Citrulline; Humans; Hyperammonemia; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Renal Dialysis; Sodium Benzoate | 2012 |
Ornithine restores ureagenesis capacity and mitigates hyperammonemia in Otc(spf-ash) mice.
Topics: Amino Acids; Animals; Glutamine; Hyperammonemia; Mice; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 2006 |
Interaction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.
Topics: Alanine; Ammonia; Animals; Arginine; Citrulline; Disease Models, Animal; Female; Glycine; Injections, Intravenous; Intestinal Mucosa; Liver; Male; Mice; Mice, Inbred ICR; Mice, Inbred Strains; Mice, Mutant Strains; Models, Biological; Mutation; Nitric Oxide; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenotype; Phenylalanine; Urea | 2007 |
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
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 |
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Blood Urea Nitrogen; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1984 |
Sparse-fur mutation: a model for some human ornithine transcarbamylase deficiencies.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Epoxy Compounds; Hair; Immunodiffusion; Male; Mice; Mice, Mutant Strains; Mitochondria, Liver; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phosphates; Valine | 1982 |
Plasma alpha-ketoglutarate in urea cycle enzymopathies and its role as a harbinger of hyperammonemic coma.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Acid; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Carbamyl Phosphate; Child; Child, Preschool; Coma; Female; Hepatic Encephalopathy; Humans; Infant; Infant, Newborn; Ketoglutaric Acids; Ligases; Lyases; Male; Middle Aged; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1980 |
Ornithine transcarbamylase (OTC) in white blood cells.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbamyl Phosphate; Carbon Radioisotopes; Cattle; Cells, Cultured; Humans; Infant; Leukocytes; Liver; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Radioligand Assay | 1980 |
Ultrastructural changes in the mitochondria in disorders in ornithine metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Citrulline; Humans; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1980 |
The effects of various inhibitors on the regulation of orotic acid excretion in sparse-fur mutant mice (spf/Y) deficient in ornithine transcarbamylase.
Topics: Adenine; Animals; Antimetabolites; Aspartic Acid; Creatinine; Cycloheximide; Injections, Intraperitoneal; Isoxazoles; Liver; Male; Mice; Mice, Mutant Strains; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phosphonoacetic Acid | 1993 |
Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.
Topics: Absorption; Ammonia; Arginine; Child, Preschool; Citrulline; Diagnosis, Differential; Dietary Proteins; Female; Glutamine; Hepatitis; Humans; Infant; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea | 1996 |
A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Binding Sites; Child, Preschool; Codon, Terminator; DNA Probes; Exons; Female; Humans; Mutation; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1996 |
No increase of ornithine concentration in the liver of ornithine transcarbamylase-deficient spf-ash mice following intraperitoneal injection of ammonium chloride.
Topics: Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Liver; Mice; Mice, Inbred Strains; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Peptones | 1997 |
Aberrations of ammonia metabolism in ornithine carbamoyltransferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Ammonium Chloride; Animals; Arginine; Citrulline; Enzyme Inhibitors; Injections, Intraperitoneal; Liver; Male; Mice; Mice, Transgenic; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Perfusion; Urea | 1999 |
Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.
Topics: Alleles; Animals; Female; Genes; Genetic Linkage; Heterozygote; Hydrogen-Ion Concentration; Male; Mice; Mutation; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenotype; Sex Chromosomes; Urinary Bladder Calculi | 1976 |
Some kinetic properites of liver ornithine carbamoyl transferase (OCT) in a patient with OCT deficiency.
Topics: Child, Preschool; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Liver; Male; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease | 1977 |
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Child, Preschool; Citrates; Dietary Proteins; Humans; Lactulose; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1978 |
Congenital hyperammonemic syndromes.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Diagnosis, Differential; Humans; Hyperargininemia; Infant, Newborn; Infant, Newborn, Diseases; Lysine; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Syndrome; Urea | 1976 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; Humans; Intellectual Disability; Leukocytes; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotate Phosphoribosyltransferase; Orotic Acid; Orotidine-5'-Phosphate Decarboxylase; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Seizures; Syndrome; Urea | 1975 |
[The dibasic amino acid metabolic disorders].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Blood Transfusion; Citrulline; Humans; Hyperargininemia; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Renal Dialysis | 1992 |
Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Cells, Cultured; Citrulline; Female; Gestational Age; Hepatitis B Surface Antigens; Humans; Hyaline Membrane Disease; Infant, Newborn; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine-Oxo-Acid Transaminase; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Syndrome | 1992 |
Citrulline concentrations in human plasma after arginine load.
Topics: Adult; Amino Acids, Essential; Arginine; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing); Citrulline; Humans; Male; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1991 |
Hyperammonemia caused by impaired mitochondrial ornithine transport in a patient with partial quantitative deficiency of ornithine carbamoyltransferase.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Ammonia; Humans; Liver; Male; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1990 |
Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
Topics: Amino Acids; Carbamyl Phosphate; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Liver; Male; Ornithine; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Temperature | 1989 |
Altered enzyme activities and citrulline synthesis in liver mitochondria from ornithine carbamoyltransferase-deficient sparse-furash mice.
Topics: Animals; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Glutamate Dehydrogenase; Hydroxybutyrate Dehydrogenase; Male; Mice; Mice, Mutant Strains; Mitochondria, Liver; Ornithine; Ornithine Carbamoyltransferase Deficiency Disease | 1989 |