glutamine has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 44 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 5 (11.36) | 18.7374 |
| 1990's | 17 (38.64) | 18.2507 |
| 2000's | 11 (25.00) | 29.6817 |
| 2010's | 7 (15.91) | 24.3611 |
| 2020's | 4 (9.09) | 2.80 |
| Authors | Studies |
|---|---|
| Burczynski, ME; Chen, H; Cheng, X; Halasz, G; Kim, S; Lin, AZ; Mao, X; Murphy, AJ; Na, E; Okamoto, H; Sleeman, MW | 1 |
| Fukui, K; Ishihara, N; Kakuma, T; Matsunari, H; Nagashima, H; Takahashi, T; Uchikura, A; Watanabe, M; Watanabe, Y; Yamashita, Y; Yoshino, M | 1 |
| Anarat-Cappillino, G; Belanger, AJ; Gefteas, E; Geller, S; Kloss, A; Przybylska, M; Yew, NS | 1 |
| Iijima, H; Kubota, M | 1 |
| Almannai, M; Elsea, SH; Jiang, Y; Sun, Q; Sutton, VR | 1 |
| Akula, VP; Alcorn, D; Benitz, WE; Bernstein, JA; Berquist, WE; Blumenfeld, YJ; Castillo, RO; Concepcion, W; Cowan, TM; Cox, KL; Cusmano, K; Enns, GM; Esquivel, CO; Hintz, SR; Homeyer, M; Hudgins, L; Hurwitz, M; Lyell, DJ; Palma, JP; Schelley, S; Summar, ML; Wilnai, Y | 1 |
| Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N | 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 |
| Arranz, JA; Artuch, R; Briones, P; Campistol, J; Fons, C; García-Cazorla, A; Gómez-López, L; Häberle, J; Jara, F; Martins, C; Murgui, E; Pérez-Dueñas, B; Pineda, M; Serrano, M; Vilaseca, MA | 1 |
| Garlick, PJ; Jahoor, F; Lanpher, BC; Lee, B; Marini, JC; O'Brien, WE; Scaglia, F; Sun, Q | 1 |
| Mhanni, AA; Prasad, C; Rockman-Greenberg, C | 1 |
| Ikehira, H; Kanazawa, M; Kohno, Y; Kurihara, A; Morita, F; Takanashi, J; Tanada, S; Tomita, M; Yamamoto, S | 1 |
| Blake, J; Fletcher, JM; Gerace, R; Harrison, JR; Johnson, DW; Ranieri, E; Trinh, MU | 1 |
| Oexle, K | 1 |
| Harada, E; Hirose, S; Ichikawa, K; Kumashiro, R; Kuno, T; Kuriya, N; Kuromaru, R; Nishiyori, A; Tokunaga, Y; Watanabe, Y; Yoshino, M | 1 |
| Garlick, PJ; Lee, B; Marini, JC | 1 |
| Chan, GC; Kwong, NS; Lam, CW; Lau, KY; Li, SK; Low, LC; Mak, CM; Poon, GW; Siu, TS; Tam, S; Tang, NL; Wong, KY | 1 |
| Gillard, J; Hackett, A; Wilcken, B | 1 |
| Blanke, CD; Chan, JS; Harding, CO | 1 |
| Batshaw, ML; Brusilow, S; Tinker, J | 1 |
| Brusilow, SW | 1 |
| Kodama, H; Maki, I; Nose, O; Okada, S; Sano, T; Tajiri, H; Yabuuchi, H | 1 |
| Letarte, J; Ouellet, R; Qureshi, IA | 1 |
| Brusilow, SW; Finkelstien, J | 1 |
| Butterworth, RF; Qureshi, IA; Ratnakumari, L | 2 |
| Connelly, A; Cross, JH; Gadian, DG; Hunter, JV; Kirkham, FJ; Leonard, JV | 1 |
| Batshaw, ML; Furth, EE; Robinson, MB; Smith, I; Wilson, JM; Ye, X | 1 |
| Donati, MA; Filippi, L; Resti, M; Zammarchi, E | 1 |
| Batshaw, ML; Heyes, MP; Hopkins, K; McLaughlin, BA; Oster-Granite, ML; Robinson, MB | 1 |
| Batshaw, M; Daikhin, Y; Jawad, A; Nissim, I; Wilson, J; Yudkoff, M | 1 |
| Ahrens, MJ; Berry, SA; Markowitz, DJ; Plante, RJ; Tuchman, M; Whitley, CB | 1 |
| Ausems, MG; Bakker, E; Beemer, FA; Berger, R; de Valk, HW; Dorland, L; Duran, M; Eskes, PF; Keulemans, JL; Kneppers, AL; Poll-The, BT; Smeitink, JA; van Diggelen, OP | 1 |
| Batshaw, ML; Daikhin, Y; Wilson, JM; Ye, X; Yudkoff, M | 1 |
| Bale, A; Brusilow, SW; Glynn, M; Lord, C; Maestri, NE | 1 |
| Tuchman, M; Yudkoff, M | 1 |
| Fletcher, JM; Harbord, MG; Harrison, RJ; Poplawski, NK; Wiltshire, EJ | 1 |
| Burlina, AB; Korall, H; Ogier, H; Trefz, FK | 1 |
| Lee, PJ; Leonard, JV; Wilson, CJ | 1 |
| Brusilow, SW; Maestri, NE; McGowan, KD | 1 |
| Malcolm, S; Rutland, P; Strautnieks, S | 1 |
| Holzknecht, RA; Tuchman, M | 1 |
| Fujiwara, F; Funahashi, S; Hayashi, A; Nakanishi, T; Saiki, K; Shimizu, A | 1 |
| Lee, JT; Nussbaum, RL | 1 |
2 trial(s) available for glutamine and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Phenylbutyrate improves nitrogen disposal via an alternative pathway without eliciting an increase in protein breakdown and catabolism in control and ornithine transcarbamylase-deficient patients.
Topics: Adolescent; Adult; Aged; Amino Acids; Amino Acids, Branched-Chain; Child; Female; Glutamine; Humans; Male; Metabolic Networks and Pathways; Middle Aged; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Proteins; Urea; Young Adult | 2011 |
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 |
42 other study(ies) available for glutamine and Deficiency Disease, Ornithine Carbamoyltransferase
| Article | Year |
|---|---|
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.
Topics: Ammonia; Animals; Disease Models, Animal; Glutaminase; Glutamine; Humans; Hyperammonemia; Liver; Mice; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Urea; Urea Cycle Disorders, Inborn | 2022 |
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 |
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Neutral; Ammonia; Animals; Disease Models, Animal; Glutamine; Mice; Mice, Knockout; Nitrogen; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 2023 |
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 |
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels.
Topics: Ammonia; Argininosuccinic Aciduria; Chromatography, Liquid; Female; Glutamine; Glycerol; Humans; Limit of Detection; Male; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Phenylbutyrates; Tandem Mass Spectrometry; Urea; Urea Cycle Disorders, Inborn | 2017 |
Prenatal treatment of ornithine transcarbamylase deficiency.
Topics: Ammonia; Drug Combinations; Female; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Pregnancy; Prenatal Care; Prenatal Diagnosis; Sodium Benzoate; Treatment Outcome; Urea | 2018 |
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinate Synthase; Argininosuccinic Aciduria; Electroencephalography; Female; Glutamine; Humans; Hyperammonemia; Hypoxia-Ischemia, Brain; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase Deficiency Disease; Seizures | 2018 |
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 |
Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
Topics: Adolescent; Adult; Age of Onset; Carbamoyl-Phosphate Synthase I Deficiency Disease; Child; Child, Preschool; Citrullinemia; Female; Follow-Up Studies; Glutamine; Humans; Male; Mental Disorders; Ornithine Carbamoyltransferase Deficiency Disease; Quaternary Ammonium Compounds; Retrospective Studies; Treatment Outcome; Urea Cycle Disorders, Inborn | 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 |
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age of Onset; Brain; Case-Control Studies; Child; Child, Preschool; Choline; Female; Glutamine; Humans; Inositol; Liver Transplantation; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Ornithine Carbamoyltransferase Deficiency Disease; Protons | 2002 |
Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency.
Topics: Blood Specimen Collection; Female; Glutamine; Humans; Infant, Newborn; Male; Mass Spectrometry; Neonatal Screening; Ornithine Carbamoyltransferase Deficiency Disease | 2003 |
Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information.
Topics: Allopurinol; Genetic Carrier Screening; Glutamine; Humans; Logistic Models; Ornithine Carbamoyltransferase Deficiency Disease; Risk Factors | 2006 |
Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile.
Topics: Adolescent; Adult; Age of Onset; Amino Acids; Ammonia; Child; Glutamine; Humans; Liver; Lysine; Male; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease; Prognosis; Regression Analysis | 2006 |
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 |
Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy.
Topics: Ammonia; Brain Diseases, Metabolic; Child, Preschool; DNA Mutational Analysis; Glutamine; Humans; Male; Mutation, Missense; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Treatment Outcome | 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 |
Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Carbamoyl-Phosphate Synthase (Ammonia); Child; Female; Glutamine; Glycine; Hippurates; Humans; Infant; Male; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Phosphotransferases | 1980 |
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 |
Organic acid metabolism in a patient with ornithine transcarbamylase deficiency.
Topics: Ammonia; Ammonium Chloride; Child; Citrates; Citric Acid; Female; Glutamine; Humans; Ketoglutaric Acids; Ornithine Carbamoyltransferase Deficiency Disease; Pyruvates; Pyruvic Acid; Succinates; Succinic Acid | 1982 |
Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Diet; Female; Glutamine; Heterozygote; Liver; Male; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid | 1982 |
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 |
Effect of sodium benzoate on cerebral and hepatic energy metabolites in spf mice with congenital hyperammonemia.
Topics: Acetyl Coenzyme A; Adenosine Triphosphate; Ammonia; Animals; Benzoates; Benzoic Acid; Brain; Coenzyme A; Disease Models, Animal; Dose-Response Relationship, Drug; Glutamine; Liver; Male; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase Deficiency Disease; Time Factors; Urea | 1993 |
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Brain Diseases; Child; Female; Glutamine; Humans; Infant; Magnetic Resonance Imaging; Ornithine Carbamoyltransferase Deficiency Disease | 1993 |
Prolonged metabolic correction in adult ornithine transcarbamylase-deficient mice with adenoviral vectors.
Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Animals; Crosses, Genetic; Cytomegalovirus; Female; Genetic Therapy; Glutamine; Humans; Immunohistochemistry; Liver; Male; Mice; Mice, Knockout; Mitochondria, Liver; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Promoter Regions, Genetic; Sequence Deletion; Time Factors; Transfection | 1996 |
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 |
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.
Topics: Ammonia; Animals; Brain Damage, Chronic; Disease Models, Animal; Glutamine; Hair; Metabolism, Inborn Errors; Mice; Mice, Inbred Strains; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Quinolinic Acid; Tryptophan | 1995 |
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Child; Female; Glutamine; Heterozygote; Humans; Male; Middle Aged; Nitrogen; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; 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 |
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
Topics: Adult; Aged; Allopurinol; Autopsy; Biopsy; Child; Child, Preschool; Female; Glutamine; Heterozygote; Humans; Liver; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; X Chromosome | 1997 |
In vivo measurement of ureagenesis with stable isotopes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonium Chloride; Breath Tests; Carbon Dioxide; Carbon Isotopes; Female; Gas Chromatography-Mass Spectrometry; Genetic Carrier Screening; Glutamine; Humans; Infant, Newborn; Male; Mass Spectrometry; Nitrogen Isotopes; Ornithine Carbamoyltransferase Deficiency Disease; Sodium Acetate; Urea | 1998 |
The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.
Topics: Adult; Aged; Alanine; Amino Acid Metabolism, Inborn Errors; Female; Glutamine; Heterozygote; Humans; Middle Aged; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Pedigree; Phenotype; Pregnancy; Risk Factors | 1998 |
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Topics: Adolescent; Adult; Alanine; Amino Acids; Ammonia; Asparagine; Carbon-Nitrogen Ligases; Child; Child, Preschool; Data Interpretation, Statistical; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies | 1999 |
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
Topics: Alanine; Chorea; Female; Glutamine; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Uracil | 2000 |
Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients.
Topics: Adolescent; Ammonia; Benzoates; Benzoic Acid; Child; Child, Preschool; DNA Mutational Analysis; Drug Therapy, Combination; Female; Glutamine; Humans; Infant; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Phenylbutyrates; Retrospective Studies; Treatment Outcome | 2001 |
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
Topics: Adolescent; Adult; Ammonia; Child; Child, Preschool; Citrullinemia; Glutamine; Humans; Ornithine Carbamoyltransferase Deficiency Disease; Retrospective Studies | 2001 |
Effects of congenital hyperammonemia on the cerebral and hepatic levels of the intermediates of energy metabolism in spf mice.
Topics: Adenosine Triphosphate; Ammonia; Animals; Brain; Coenzyme A; Energy Metabolism; Glucose; Glutamine; Ketoglutaric Acids; Liver; Mice; Mice, Mutant Strains; NAD; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Oxidation-Reduction; Pyruvates; Pyruvic Acid; X Chromosome | 1992 |
Plasma glutamine concentration: a guide in the management of urea cycle disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Glutamine; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea | 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 |
Heterogeneity of patients with late onset ornithine transcarbamylase deficiency.
Topics: Adolescent; Adult; Age Factors; Ammonia; Child; Child, Preschool; Female; Genetic Variation; Glutamine; Heterozygote; Humans; Infant; Intellectual Disability; Liver; Male; Mutation; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Phenotype | 1991 |
Quantitative analysis of urinary pyroglutamic acid in patients with hyperammonemia.
Topics: Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Glutamine; Humans; Infant; Infant, Newborn; Male; Middle Aged; Ornithine Carbamoyltransferase Deficiency Disease; Orotic Acid; Pyrrolidonecarboxylic Acid; Urea | 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 |