arginine has been researched along with Ornithine Carbamoyltransferase Deficiency Disease in 58 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 17 (29.31) | 18.7374 |
| 1990's | 16 (27.59) | 18.2507 |
| 2000's | 11 (18.97) | 29.6817 |
| 2010's | 12 (20.69) | 24.3611 |
| 2020's | 2 (3.45) | 2.80 |
| Authors | Studies |
|---|---|
| Iijima, H; Kubota, 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 |
| Cynober, L; Forbes, A; Osowska, S; Papadia, C | 1 |
| Beggs, A; Bessudo, A; Cheng, P; De Santo, C; Egan, S; Mussai, F | 1 |
| Didelija, IC; Marini, JC; Mohammad, MA; Wang, X; Yuan, Y | 1 |
| Harada, M; Hiura, M; Honma, Y; Ishii, M; Koya, Y; Matsumoto, S; Senju, M; Shibata, M | 1 |
| Bellantuono, R; Bellino, V; De Palo, T; Favia, V; Morrone, A; Papadia, F; Ranieri, A; Tummolo, A | 1 |
| 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, M | 1 |
| D'Onofrio, V; Enea, A; Lovera, C; Poma, F; Santarelli, F; Spada, M | 1 |
| Dubrey, SW; Pal, S; Singh, S | 1 |
| Beblo, S; Burlina, A; Das, A; de Lonlay, P; Derbinski, J; Häberle, J; Hoffmann, GF; Konstantopoulou, V; Mayorandan, S; Rennecke, J; Thimm, E; Unsinn, C; Valayannopoulos, V | 1 |
| de Jonge, WJ; Dejong, CH; Deutz, NE; Hallemeesch, MM; Lamers, WH; Luiking, YC; van de Poll, MC | 1 |
| Kanazawa, M; Kobayashi, K; Miida, T; Murayama, K; Nagasaka, H; Okano, Y; Takatani, T; Takayanagi, M; Tsukahara, H; Tsuruoka, T; Yorifuji, T | 1 |
| Walker, V | 1 |
| Fujisawa, T; Hayashi, H; Inui, A; Kobayashi, K; Komatsu, H; Miida, T; Nagasaka, H; Takatani, T; Takikawa, H; Tsukahara, H; Yorifuji, T | 1 |
| Mhanni, AA; Prasad, C; Rockman-Greenberg, C | 1 |
| Choi, DE; Lee, KW; Na, KR; Shin, YT | 1 |
| Adachi, M; Kanazawa, M; Kobayashi, K; Kubota, M; Kurokawa, K; Murakami, T; Murayama, K; Nagasaka, H; Ogawa, A; Ogawa, E; Takatani, T; Takayanagi, M; Yamamoto, S; Yorifuji, T | 1 |
| Castillo, L; Erez, A; Lee, B; Marini, JC | 1 |
| Gillard, J; Hackett, A; Wilcken, B | 1 |
| Blanke, CD; Chan, JS; Harding, CO | 1 |
| Batshaw, M; Brusilow, SW; Burton, B; Danney, M; Levitsky, L; McKeethren, C; Roth, K; Waber, LJ; Ward, J | 1 |
| Brusilow, SW | 1 |
| Batshaw, ML | 1 |
| Batshaw, ML; Blom, W; Brubakk, AM; Brusilow, S; Burton, BK; Cann, HM; Kerr, D; Mamunes, P; Matalon, R; Myerberg, D; Schafer, IA; Waber, L | 1 |
| Berger, R; Blom, W; Brubakk, AM; Teijema, LL | 1 |
| Coudé, FX; Grimber, G; Kamoun, P; Parvy, P | 1 |
| Batshaw, ML; Brusilow, S; Painter, MJ; Schafer, IA; Sproul, GT; Thomas, GH | 1 |
| Kanzaki, T; Mori, M; Murakami, T; Noda, T; Saheki, T; Shimada, T; Takiguchi, M; Tashiro, M; Yamamura, K | 1 |
| Endo, F; Hoshide, R; Ishikawa, K; Kato, I; Kiwaki, K; Koike, E; Komaki, S; Matsuura, T; Oyanagi, K; Suzuki, Y | 1 |
| Malcolm, S; Strautnieks, S | 1 |
| Brusilow, SW; Finkelstien, J | 1 |
| Donati, MA; Filippi, L; Resti, M; Zammarchi, E | 1 |
| Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB | 1 |
| Fukushige, T; Kakinoki, H; Kobayashi, K; Saheki, T | 1 |
| Busuttil, AA; Busuttil, RW; Dulkanchainun, TS; Goss, JA; McDiarmid, SV; Seu, P; Yanni, GS | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| D'Hooge, R; De Deyn, PP; Marescau, B; Qureshi, IA | 1 |
| Matsumura, R | 1 |
| Berry, GT; Steiner, RD | 1 |
| Chang, SE; Choi, JH; Koh, JK; Lee, JY; Moon, KC; Suh, CW; Sung, KJ | 1 |
| Batshaw, M; Brusilow, SW; Valle, DL | 1 |
| Batshaw, ML; Braine, H; Brusilow, SW; Moser, HW; Murray, C | 1 |
| Bakker, HD; Brink, M; de Bree, PK; Desplanque, J; van der Heiden, C; Wadman, SK | 1 |
| Gelehrter, TD; Rosenberg, LE | 1 |
| Norton, PM; Phansalkar, SV; Sansaricq, C; Schacht, RC; Snyderman, SE | 1 |
| Shiro, Y; Yabuki, S | 1 |
| Shimizu, H | 1 |
| Malcolm, S; Rutland, P; Strautnieks, S | 1 |
| Bardet, J; Kamoun, P; Narcy, C; Parvy, P; Rabier, D; Saudubray, JM | 1 |
| Bardet, J; Kamoun, P; Parvy, P; Rabier, D | 1 |
| Akaboshi, I; Hata, A; Matsuda, I; Matsuura, T; Setoyama, C; Shimada, K; Yokoi, T | 1 |
| Lee, JT; Nussbaum, RL | 1 |
| Bachmann, C; Bremer, HJ; Wendel, U; Wieland, J | 1 |
| Girgis, N; Herrin, J; McGravey, V; Shah, BL; Shih, VE | 1 |
| Maddalena, A; Nussbaum, RL; O'Brien, WE; Spence, JE | 1 |
| Harding, BN; Leonard, JV; Oley, CA; Pembrey, ME | 1 |
5 review(s) available for arginine and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Citrulline in health and disease. Review on human studies.
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 |
Ammonia toxicity and its prevention in inherited defects of the urea cycle.
Topics: Adult; Ammonia; Animals; Arginine; Genetic Therapy; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Urea; Urea Cycle Disorders, Inborn | 2009 |
The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Follow-Up Studies; Humans; Infant; Infant, Newborn; Liver Transplantation; Male; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies; Transplantation, Homologous; Urea | 1998 |
[Disorders of the urea cycle].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Acid; Citrullinemia; Humans; Nervous System Diseases; Ornithine Carbamoyltransferase Deficiency Disease; Prognosis; Urea | 2000 |
[A case of ornithine transcarbamylase deficiency presenting severe symptoms in adulthood].
Topics: Adult; Ammonia; Arginine; Citrulline; Consciousness Disorders; Female; Glycine; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1992 |
3 trial(s) available for arginine and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
Metabolic therapy with PEG-arginase induces a sustained complete remission in immunotherapy-resistant melanoma.
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 |
Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency.
Topics: Age of Onset; Amino Acids; Ammonia; Analysis of Variance; Arginine; Biomarkers; Blood Proteins; Body Height; Body Weight; Child, Preschool; Cholesterol, HDL; Cholesterol, LDL; Diet, Protein-Restricted; Growth; Growth Hormone; Humans; Hyperammonemia; Insulin-Like Growth Factor Binding Protein 3; Insulin-Like Growth Factor I; Japan; Male; Nutritional Physiological Phenomena; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Thyrotropin; Time Factors; Treatment Outcome; Triglycerides; Urea | 2006 |
n of 1 trial for an ornithine transcarbamylase deficiency carrier.
Topics: Affect; Arginine; Cross-Over Studies; Double-Blind Method; Female; Genetic Diseases, X-Linked; Glutamine; Heterozygote; Humans; Male; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Quality of Life; Surveys and Questionnaires; X Chromosome Inactivation | 2008 |
50 other study(ies) available for arginine and Ornithine Carbamoyltransferase Deficiency Disease
| Article | Year |
|---|---|
A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency.
Topics: Arginine; Child; Citrulline; Female; Glutamine; Heterozygote; Humans; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies | 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 |
Ex Vivo Enteroids Recapitulate In Vivo Citrulline Production in Mice.
Topics: Animals; Arginine; Citrulline; Disease Models, Animal; Intestines; Liver; Male; Mice; Mice, Inbred ICR; Mice, Mutant Strains; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Tissue Culture Techniques; Urea | 2018 |
Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Topics: Adolescent; Amino Acids; Ammonia; Arginine; Coma; Female; Humans; Hyperammonemia; Male; Middle Aged; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Vomiting | 2019 |
Successful early management of a female patient with a metabolic stroke due to ornithine transcarbamylase deficiency.
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 |
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.
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 |
Hyperammonemic coma in a patient with late-onset OTC deficiency.
Topics: Arginine; Child; Coma; Diagnosis, Differential; Fluid Therapy; Humans; Hyperammonemia; Lethargy; Male; Ornithine Carbamoyltransferase Deficiency Disease; Phenotype; Rehydration Solutions; Treatment Outcome; Vomiting | 2014 |
Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.
Topics: Adult; Ammonia; Arginine; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Sodium Benzoate; Treatment Outcome; Urea Cycle Disorders, Inborn | 2016 |
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.
Topics: Arginine; Child, Preschool; Female; Humans; Hyperammonemia; Infant; Kaplan-Meier Estimate; Liver Transplantation; Male; Ornithine Carbamoyltransferase Deficiency Disease; Prognosis; Retrospective Studies; Sodium Benzoate; Urea Cycle Disorders, Inborn | 2016 |
Reduced citrulline availability by OTC deficiency in mice is related to reduced nitric oxide production.
Topics: Animals; Arginine; Biological Availability; Carbon Isotopes; Citrulline; Deuterium; Female; Lipopolysaccharides; Male; Mice; Mice, Inbred C57BL; Mice, Transgenic; Models, Biological; Nitric Oxide; Nitrogen Isotopes; Ornithine Carbamoyltransferase Deficiency Disease | 2008 |
Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects.
Topics: Arginine; Argininosuccinate Lyase; Argininosuccinate Synthase; Child, Preschool; Citrulline; Female; Humans; Infant; Infant, Newborn; Male; Nitric Oxide; Nitric Oxide Synthase; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 2009 |
Favorable effect of 4-phenylacetate on liver functions attributable to enhanced bile salt export pump expression in ornithine transcarbamylase-deficient children.
Topics: Adenosine Triphosphatases; Adolescent; Arginine; ATP Binding Cassette Transporter, Subfamily B, Member 11; ATP-Binding Cassette Transporters; Bile Acids and Salts; Child, Preschool; Diet, Protein-Restricted; Female; Humans; Hyperammonemia; Liver; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Receptors, Cytoplasmic and Nuclear; Retrospective Studies; RNA, Messenger; Sodium Benzoate | 2010 |
Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
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 |
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 |
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 |
Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinate Synthase; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Drug Administration Schedule; Humans; Infant; Injections, Intravenous; Male; Ornithine Carbamoyltransferase Deficiency Disease; Parenteral Nutrition, Total; Phenylacetates; Renal Dialysis; Urea | 1984 |
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 |
Sodium benzoate and arginine: alternative pathway therapy in inborn errors of urea synthesis.
Topics: Adolescent; Adult; Aged; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Argininosuccinic Aciduria; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Child; Female; Humans; Male; Middle Aged; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Urea | 1983 |
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Essential; Ammonia; Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Benzoates; Benzoic Acid; Carbamoyl-Phosphate Synthase (Ammonia); Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Infusions, Parenteral; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1982 |
Successful treatment of severe OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Benzoates; Benzoic Acid; Citrulline; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease | 1982 |
N-Acetyl glutamate synthetase in human liver: regulation of activity by L-arginine and N-acetylglutamate.
Topics: Acetyltransferases; Amino-Acid N-Acetyltransferase; Animals; Arginine; Argininosuccinate Synthase; Glutamates; Humans; Kinetics; Liver; Ornithine Carbamoyltransferase Deficiency Disease; Rats | 1981 |
Therapy of urea cycle enzymopathies: three case studies.
Topics: Ammonia; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Child, Preschool; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Lyases; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1981 |
Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene.
Topics: Animals; Arginine; Citrulline; Crosses, Genetic; Disease Models, Animal; Female; Genetic Linkage; Hair; Intestine, Small; Liver; Male; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Mice, Transgenic; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenotype; Rats; Skin Abnormalities; X Chromosome | 1994 |
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Aspartic Acid; Base Sequence; DNA Mutational Analysis; DNA Primers; DNA, Single-Stranded; Glycine; Histidine; Humans; Infant; Infant, Newborn; Isoleucine; Male; Methionine; Molecular Epidemiology; Molecular Sequence Data; Nucleic Acid Conformation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tryptophan; X Chromosome | 1994 |
Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.
Topics: Alanine; Amino Acid Sequence; Arginine; Base Sequence; DNA; DNA Primers; Exons; Female; Humans; Infant; Leucine; Male; Molecular Sequence Data; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Point Mutation; RNA Splicing; RNA, Messenger; X Chromosome | 1993 |
Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency.
Topics: Adult; Arginine; Glutamine; Homeostasis; Humans; Male; Nitrogen; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Quaternary Ammonium Compounds; Urea | 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 |
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Topics: Allopurinol; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Female; Glutamine; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 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 |
Proceedings of a satellite meeting on advances in inherited urea cycle disorders. Vienna, 20-21 May 1997.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Genetic Therapy; Genome, Human; Humans; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1998 |
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 |
Impaired cognitive performance in ornithine transcarbamylase-deficient mice on arginine-free diet.
Topics: Ammonia; Animals; Arginine; Avoidance Learning; Cognition Disorders; Diet; Maze Learning; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Reference Values; Retention, Psychology; Swimming | 2000 |
Long-term management of patients with urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Dietary Proteins; Humans; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Urea | 2001 |
A case of acrodermatitis enteropathica-like dermatosis caused by ornithine transcarbamylase deficiency.
Topics: Acrodermatitis; Arginine; Citrulline; Diagnosis, Differential; Diaper Rash; Diet, Protein-Restricted; Facial Dermatoses; Female; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Disease; Peritoneal Dialysis; Sodium Benzoate | 2002 |
New pathways of nitrogen excretion in inborn errors of urea synthesis.
Topics: Arginine; Argininosuccinate Synthase; Argininosuccinic Aciduria; Citrulline; Dietary Proteins; Hippurates; Humans; Infant; Metabolism, Inborn Errors; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenylacetates; Urea | 1979 |
Management of heritable disorders of the urea cycle and of Refsum's and Fabry's diseases.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Dietary Proteins; Fabry Disease; Hippurates; Humans; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phytanic Acid; Plasmapheresis; Refsum Disease; Trihexosylceramides; Urea | 1979 |
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 |
Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.
Topics: Ammonia; Arginine; Carbamates; Catheterization; Drug Therapy, Combination; Glutamates; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Ornithine Carbamoyltransferase Deficiency Disease; Time Factors; Umbilical Arteries | 1975 |
The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.
Topics: Amino Acids; Amino Acids, Essential; Ammonia; Arginine; Aspartic Acid; Deficiency Diseases; Exchange Transfusion, Whole Blood; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Ornithine Carbamoyltransferase Deficiency Disease; Peritoneal Dialysis | 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 |
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
Topics: Alleles; Arginine; Base Sequence; Exons; Female; Glutamine; Humans; Infant; Male; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Polymerase Chain Reaction; Restriction Mapping | 1991 |
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficiencies.
Topics: Ammonia; Arginine; Argininosuccinate Synthase; Child; Child, Preschool; Female; Humans; Liver Transplantation; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1991 |
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 |
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
Topics: Alleles; Amino Acid Sequence; Arginine; Base Sequence; Exons; Genotype; Heterozygote; Humans; Infant; Male; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Oligonucleotide Probes; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree; Tryptophan | 1991 |
An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
Topics: Alkaline Phosphatase; Arginine; Base Sequence; Cell Line; Cloning, Molecular; DNA; Gene Expression; Genetic Vectors; Glutamine; Humans; Molecular Sequence Data; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Placenta; Plasmids; Simian virus 40; Transfection | 1989 |
Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Dietary Proteins; Genetic Carrier Screening; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease | 1989 |
Lethal ornithine transcarbamylase deficiency in a female neonate.
Topics: Ammonia; Arginine; Citrulline; Coma; Female; Humans; Infant, Newborn; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Peritoneal Dialysis; Stevens-Johnson Syndrome | 1987 |
Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
Topics: Adult; Arginine; Base Sequence; Blotting, Southern; Child, Preschool; Cloning, Molecular; Codon; Female; Humans; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; RNA, Messenger | 1988 |
Neuropathologic changes in ornithine carbamoyl transferase deficiency.
Topics: Ammonia; Arginine; Brain Diseases; Female; Humans; Male; Ornithine Carbamoyltransferase Deficiency Disease; Pregnancy; Prenatal Diagnosis | 1986 |