citrulline has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 56 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 15 (26.79) | 18.7374 |
| 1990's | 16 (28.57) | 18.2507 |
| 2000's | 11 (19.64) | 29.6817 |
| 2010's | 9 (16.07) | 24.3611 |
| 2020's | 5 (8.93) | 2.80 |
| Authors | Studies |
|---|---|
| Iijima, H; Kubota, M | 1 |
| Ba, Y; Cao, Y; Gao, RW; Wu, BB; Yang, L; Zhang, R; Zhou, JG; Zhou, WH | 1 |
| Hasegawa, Y; Kobayashi, H; Lee, T; Murayama, K; Nakamura, K; Sasai, H; Suga, T; Takeshima, Y; Yoshida, S; Yoshii, K | 1 |
| Abu Salah, N; Almashanu, S; Anikster, Y; Banne, E; Blau, A; Daas, S; Dar, D; Dumin, E; Falik-Zaccai, T; Fattal-Valevski, A; Hershkovitz, E; Josefsberg, S; Keidar, R; Khammash, H; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, D; Mandel, H; Marom, R; Morag, I; Nadir, E; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rostami, N; Saada, A; Saraf-Levy, T; Segel, R; Shaag, A; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Yosha-Orpaz, N; Zeharia, A | 1 |
| Gu, X; Han, F; Han, L; Ji, W; Liang, L; Lu, D; Qiu, W; Wang, Y; Ye, J; Zhan, X; Zhang, H | 1 |
| Cynober, L; Forbes, A; Osowska, S; Papadia, C | 1 |
| Didelija, IC; Marini, JC; Mohammad, MA; Wang, X; Yuan, Y | 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 |
| Gao, X; Gong, Z; Gu, X; Han, F; Han, L; Jin, J; Qiu, W; Wang, Y; Ye, J; Zhang, H | 1 |
| Arnoux, JB; Barbier, V; Barouki, R; Bonnefont, JP; Brassier, A; De Lonlay, P; Dubois, S; Dupic, L; Gobin, S; Habarou, F; Kossorotoff, M; Lesage, F; Ottolenghi, C; Servais, A; Touati, G; Valayannopoulos, V | 1 |
| de Jonge, WJ; Dejong, CH; Deutz, NE; Hallemeesch, MM; Lamers, WH; Luiking, YC; van de Poll, MC | 1 |
| Cheng, PN; Choi, SC; Chong, HC; Chow, TL; Kwok, SY; Lam, TL; Leung, YC; Lo, WH; Poon, RT; Wheatley, DN; Wong, GK | 1 |
| Kanazawa, M; Kobayashi, K; Miida, T; Murayama, K; Nagasaka, H; Okano, Y; Takatani, T; Takayanagi, M; Tsukahara, H; Tsuruoka, T; Yorifuji, T | 1 |
| Cavicchi, C; Donati, MA; Gasperini, S; Guerrini, R; la Marca, G; Malvagia, S; Morrone, A; Pasquini, E; Zammarchi, E | 1 |
| Cao, Y; Li, XT; Sun, WH; Wang, Y; Yang, Y; Zhang, M; Zhang, YP | 1 |
| Mhanni, AA; Prasad, C; Rockman-Greenberg, C | 1 |
| Choi, DE; Lee, KW; Na, KR; Shin, YT | 1 |
| Antuzzi, D; Arcangeli, A; Conti, G; Gaspari, R; Mensi, S; Proietti, R; Tartaglione, T; Wismayer, DS | 1 |
| Carpenter, K; Chiong, MA; Christodoulou, J | 1 |
| Castillo, L; Erez, A; Lee, B; Marini, JC | 1 |
| Blanke, CD; Chan, JS; Harding, CO | 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 |
| Gordon, BA; Haust, MD | 1 |
| Carter, M; Donnel, GN; Koch, R; McLaren, J; Ng, WG; Oizumi, J; Shaw, KN | 1 |
| Batshaw, ML; Brusilow, S; Painter, MJ; Schafer, IA; Sproul, GT; Thomas, GH | 1 |
| Campistol, J; Fabrega, C; Mas, A; Pineda, M; Vernet, A; Vilaseca, MA | 1 |
| Kanzaki, T; Mori, M; Murakami, T; Noda, T; Saheki, T; Shimada, T; Takiguchi, M; Tashiro, M; Yamamura, K | 1 |
| Beringer, A; Hubert, P; Jan, D; Jouvet, P; Laurent, J; Poggi, F; Rabier, D; Revillon, Y; Saudubray, JM | 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 |
| Montejo, M; Ruiz, JI; Sanjurjo, P | 1 |
| Alonso, EM; Boyle, JT; Emond, JC; Millis, JM; Molleston, JP; Rosenthal, P; Whitington, PF | 1 |
| Fukushige, T; Kobayashi, K; Li, MX; Nakajima, T; Saheki, T; Seiler, N | 1 |
| Anadiotis, G; Berry, GT; Ierardi-Curto, L; Kaplan, PB | 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 |
| Shih, VE | 1 |
| Shiro, Y; Yabuki, S | 1 |
| Shimizu, H | 1 |
| Bordugo, A; Burlina, AB; Dionisi-Vici, C; Ferrari, V; Tuchman, M; Zacchello, F | 1 |
| Laframboise, R; Mandell, R; Pichette, J; Shih, VE | 1 |
| Chen, YT; Iafolla, AK; Kahler, SG | 1 |
| Bardet, J; Kamoun, P; Parvy, P; Rabier, D | 1 |
| Cheung, CW; Cohen, NS; Raijman, L | 1 |
| Coskun, T; Kneer, J; Mönch, S; Ozalp, I | 1 |
| Bachmann, C; Grossschädl, F; Roscher, A; Stöckler, S | 1 |
| Girgis, N; Herrin, J; McGravey, V; Shah, BL; Shih, VE | 1 |
| Hata, A; Jinno, Y; Matsuda, I; Mori, M; Shimada, K | 1 |
| Inoue, I; Kobayashi, K; Saheki, T | 1 |
| Batshaw, ML; Coyle, JT; Hyman, SL; Mellits, ED; Quaskey, S; Qureshi, IA; Robinson, MB | 1 |
| Batshaw, ML | 1 |
3 review(s) available for citrulline and Deficiency Disease, Ornithine Carbamoyltransferase
| 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 |
[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 |
Hereditary disorders of the urea cycle in man: biochemical and molecular approaches.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Carbamoyl-Phosphate Synthase (Ammonia); Citrulline; Female; Humans; Hyperargininemia; Ornithine Carbamoyltransferase Deficiency Disease; Pregnancy; Prenatal Diagnosis; RNA, Messenger; Urea | 1987 |
1 trial(s) available for citrulline and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
the allopurinol test in patients with Rett syndrome.
Topics: Acids; Adolescent; Allopurinol; Amino Acids; Child; Citrulline; Female; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Quaternary Ammonium Compounds; Rett Syndrome | 1993 |
52 other study(ies) available for citrulline and Deficiency Disease, Ornithine Carbamoyltransferase
| 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 |
[Neonate-onset ornithine transcarbamylase deficiency].
Topics: Citrulline; Electroencephalography; Humans; Hyperammonemia; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Seizures | 2023 |
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
Topics: Citrulline; Humans; Infant, Newborn; Neonatal Screening; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Prospective Studies; Retrospective Studies; Tandem Mass Spectrometry | 2020 |
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Topics: Citrulline; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Israel; Male; Neonatal Screening; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Retrospective Studies; Urea Cycle Disorders, Inborn | 2021 |
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Topics: Child, Preschool; China; Citrulline; Female; Humans; Infant; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies | 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 |
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 |
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
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 |
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Citrulline; Female; Glutamine; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease; Young Adult | 2015 |
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 |
Recombinant human arginase inhibits proliferation of human hepatocellular carcinoma by inducing cell cycle arrest.
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 |
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 |
Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
Topics: Biomarkers; Chromatography, Liquid; Citrulline; Female; Humans; Incidence; Infant, Newborn; Italy; Male; Neonatal Screening; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Tandem Mass Spectrometry | 2009 |
[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Topics: Citrulline; DNA Mutational Analysis; Exons; Heterozygote; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree | 2011 |
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 |
Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma.
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 |
Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
Topics: Citrulline; Diagnosis, Differential; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease | 2007 |
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 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 |
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 |
Carrier detection of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Citrulline; Female; Genetic Carrier Screening; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pedigree; Pregnancy; Prenatal Diagnosis; Urea | 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 |
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Child; Citrulline; Humans; Liver Transplantation; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1994 |
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 |
Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids.
Topics: alpha-Linolenic Acid; Amino Acid Metabolism, Inborn Errors; Arachidonic Acid; Child; Child, Preschool; Citrulline; Diet, Protein-Restricted; Docosahexaenoic Acids; Fatty Acids, Monounsaturated; Fatty Acids, Unsaturated; Humans; Infant; Infant, Newborn; Linoleic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Myristic Acid; Ornithine Carbamoyltransferase Deficiency Disease; Phospholipids | 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 |
Liver transplantation for the treatment of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Canada; Carbamoyl-Phosphate Synthase (Ammonia); Child; Citrulline; Communication Disorders; Female; Graft Rejection; Humans; Intellectual Disability; Liver Transplantation; Male; Microcephaly; Ornithine Carbamoyltransferase Deficiency Disease; Treatment Outcome; United States; 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 |
Ornithine transcarbamylase deficiency and pancreatitis.
Topics: Adolescent; Amylases; Chronic Disease; Citrulline; Combined Modality Therapy; Diet, Protein-Restricted; Enteral Nutrition; Gastrostomy; Humans; Lipase; Male; Mutation; Ornithine Carbamoyltransferase Deficiency Disease; Pancreatitis; Phenotype; Risk Factors | 2001 |
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 |
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 |
[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 |
Allopurinol challenge test in children.
Topics: Adolescent; Aging; Allopurinol; Child; Child, Preschool; Citrulline; Female; Humans; Infant; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Urea; Uridine | 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 |
Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency.
Topics: Citrulline; Dietary Proteins; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease | 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 |
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 |
Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.
Topics: Ammonia; Brain Stem; Child; Citrulline; Coma; Diagnosis, Differential; Encephalitis; Humans; Male; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1987 |
Ornithine transcarbamylase variant in a male patient.
Topics: Amino Acids; Ammonia; Citrulline; Dietary Proteins; Genetic Variation; Humans; Hydrogen-Ion Concentration; Infant; Liver; Male; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1987 |
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 |
Attempts to investigate the molecular basis of urea cycle disorders.
Topics: Argininosuccinate Synthase; Citrulline; Humans; Ligases; Molecular Biology; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 1987 |
Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Brain; Child; Citrulline; Humans; Injections, Intraperitoneal; Male; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Serotonin | 1988 |
The diagnosis of ornithine transcarbamylase deficiency.
Topics: Animals; Carbamyl Phosphate; Citrulline; Coma; Female; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Metabolism, Inborn Errors; Mitochondria; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1985 |