glutamine and Amino Acid Metabolism Disorders, Inborn

glutamine has been researched along with Amino Acid Metabolism Disorders, Inborn in 66 studies

Research

Studies (66)

Timeframe	Studies, this research(%)	All Research%
pre-1990	30 (45.45)	18.7374
1990's	14 (21.21)	18.2507
2000's	9 (13.64)	29.6817
2010's	9 (13.64)	24.3611
2020's	4 (6.06)	2.80

Authors

Authors	Studies
Arrieta, F; Belanger-Quintana, A; Del Valle, M; Fernandez-Felix, BM; Garcia, F; Martinez-Pardo, M; Ruiz-Sala, P; Stanescu, S	1
Anarat-Cappillino, G; Belanger, AJ; Gefteas, E; Geller, S; Kloss, A; Przybylska, M; Yew, NS	1
Houwen, RHJ; Jans, JJM; Rumping, L; van Hasselt, PM; Verhoeven-Duif, NM; Vringer, E	1
Blaser, S; Chitayat, D; Godoy, R; Häberle, J; Hewson, S; Hojilla, C; Kolomietz, E; MacNeil, L; Mercimek-Andrews, S; Morgen, EK; Niles, KM; Noor, A; Ovadia, A; Roifman, M; Ryan, G; Schulze, A; Seaward, G; Shannon, P; Sondheimer, N; van Mieghem, T; Watkins, N	1
de Koning, TJ	1
Ediga, RD; Kölker, S; Komatsuzaki, S; Okun, JG; Sauer, SW	1
Agrawal, PB; Dudenhausen, EE; El Achkar, CM; Genetti, CA; Kilberg, MS; Lomelino, CL; McKenna, R; Olson, HE; Rodan, L; Sacharow, SJ	1
Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N	1
Brand-Arzamendi, K; Dobritzsch, D; Dolzhenko, E; Drögemöller, BI; Eberle, MA; Geraghty, MT; Hayward, B; Jones, MJ; Karbassi, F; Kobor, MS; Koster, J; Kumari, D; Leen, R; Li, M; MacIsaac, J; McDonald, C; Meijer, J; Nguyen, C; Pouladi, MA; Rajan-Babu, IS; Richmond, PA; Ross, CJ; Santra, S; Scherer, SW; Sim, B; Tarailo-Graovac, M; Trost, B; Tseng, LA; Turkenburg, M; Usdin, K; van Karnebeek, CDM; van Kuilenburg, ABP; van Vugt, JJFA; van Weeghel, M; Veldink, JH; Walia, JS; Wanders, RJA; Wang, Y; Wasserman, WW; Waterham, HR; Wen, XY; Wright, GEB; Xu, X; Yuen, RKC; Zhang, J	1
Ben-Omran, T; Chaudhry, FA; Frapolli, M; Görg, B; Häberle, J; Häussinger, D; Hu, L; Ibrahim, K; Penberthy, WT; Shahbeck, N; Stucki, M	1
Ballhausen, D; Braissant, O; Cudré-Cung, HP; do Vale-Pereira, S; Henry, H; Ivanisevic, J; Remacle, N; Tavel, D; Zavadakova, P	1
Karall, D; Sass, JO; Scholl-Bürgi, S; Zschocke, J	1
Ben-Omran, T; Chaudhry, FA; Häberle, J; Ibrahim, K; O'Gorman, R; Scheer, I; Schmitt, B; Shahbeck, N	1
Al-Hassnan, ZN; Boyadjiev, SA; Braverman, NE; Geraghty, MT; Hamosh, A; Praphanphoj, V; Thomas, GH	1
SACKETT, DL	1
DINGMAN, HF; WRIGHT, SW	1
DAVIDSON, DT; STAMBAUGH, R	1
AKABANE, J; MINAGAWA, A; MIZUNO, T; MORIKAWA, T; OGASAWARA, J; OKAMURA, T; TADA, K; WADA, Y; YOSHIDA, T	1
Erb, M; Ethofer, T; Grodd, W; Kardatzki, B; Klose, U; Kraft, E; Landwehrmeyer, GB; Seeger, U; Storch, A	1
Berger, R; Besley, GT; Cleary, MA; de Koning, TJ; Dorland, L; Duran, M; Mandell, R; Olpin, SE; Poll-The, BT; Shih, VE	1
Benoist, JF; Gelot, A; Görg, B; Häberle, J; Häussinger, D; Höhne, W; Koch, HG; Rutsch, F; Schliess, F; Schmidt, E; Suc, AL; Toutain, A	1
Levy, HL	1
Ashurst, CL; Ernst, SL; Filipowicz, HR; Longo, N; Pasquali, M	1
Hoffmann, GF; Kölker, S; Okun, JG	1
Jalan, R; Rose, C	1
Efron, ML; Mechanic, GL; Shih, VE	1
Nicklas, WJ	1
Batshaw, ML; Brusilow, S; Tinker, J	1
Inaba, M; Maede, Y; Taniguchi, N	1
Gray, RG; Hill, SE; Pollitt, RJ	1
Brusilow, SW	1
Grüttner, R; Held, KR; Koepp, P; Plettner, C	1
Prusiner, SB	1
Letarte, J; Ouellet, R; Qureshi, IA	1
Batshaw, ML; Brusilow, SW; Thomas, GH	1
Butterworth, RF; Qureshi, IA; Ratnakumari, L	1
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
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
Batshaw, ML; Daikhin, Y; Wilson, JM; Ye, X; Yudkoff, M	1
Bale, A; Brusilow, SW; Glynn, M; Lord, C; Maestri, NE	1
Aguilar-Cordova, E; Beaudet, AL; Dennis, JA; Healy, PJ; Lee, B; Mull, B; O'Brien, W; Pastore, L; Reeds, P; Yu, H	1
Berry, GT; Ierardi-Curto, L; Kaplan, P; Mazur, A; Saitta, S	1
Batshaw, ML; Brusilow, SW	1
Baibas, S; Burgess, EA; Mantagos, S; Oberholzer, V; Palmer, T; Sacks, J; Tsagaraki, S; Valaes, T	1
Böhles, H; Fekl, W; Harms, D; Heid, H; Schmid, D	1
Hansen, S; MacLean, J; Perry, TL	1
Burgess, EA; Levin, B; Oberholzer, VG; Palmer, T	1
Ando, T; Kilroy, A; Nyhan, WL; Sweetman, L; Wadlington, WB	1
Colombo, JP; Straver, JS; van der Vijver, JC; van Woerkom, TC; Verbiest, HB	1
Brusilow, SW; Maestri, NE; McGowan, KD	1
Chang, LJ; Deck, J; el-Awar, M; Gilbert, J; Kish, SJ; Robitaille, Y; Schut, L	1
Kaneko, K; Miyatake, T; Ohno, T; Yanagisawa, K; Yuki, N	1
Fujiwara, F; Funahashi, S; Hayashi, A; Nakanishi, T; Saiki, K; Shimizu, A	1
Brusilow, SW; Havens, PL; Haymond, MW; Kan, JS; McLean, RH; Rutledge, SL	1
Alme, A; Broch, H; Gjessing, LR; Lie, SO; Lunde, HA; Undrum, T	1
Brusilow, SW; Rajantie, J; Simell, O; Sipilä, I; Valle, DL	1
Bundgaard, L; Winther, A	1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M	1
Sperling, O; Starmer, F; Wyngaarden, JB	1
Abzug-Horowitz, S; Pinson, A; Russell, A; Statter, M	1
Applegarth, DA; Hardwick, DF; Hingston, J; Ingram, P	1
Burt, D; Emery, AE	1
Barois, A; Caldera, R; Escourolle, R; Goulon, M; Grosbuis, S; Nouailhat, F	1
Jagenburg, R; Lindstedt, G; Malmquist, J	1

Reviews

5 review(s) available for glutamine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Inborn errors of enzymes in glutamate metabolism. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Databases, Factual; Deficiency Diseases; Glutamates; Glutamine; Humans	2020
Amino acid synthesis deficiencies. Journal of inherited metabolic disease, 2017, Volume: 40, Issue:4 Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Brain Diseases; Central Nervous System; Fetal Growth Retardation; Glutamine; High-Throughput Nucleotide Sequencing; Humans; Ichthyosis; Limb Deformities, Congenital; Metabolic Diseases; Mice; Microcephaly; Proline; Serine	2017
Amino acid metabolism in patients with propionic acidaemia. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Citric Acid Cycle; Diet; Glutamine; Glycine; Humans; Isoleucine; Lysine; Methylmalonyl-CoA Decarboxylase; Models, Biological; Propionic Acidemia; Urea; Valine	2012
Amino acid metabolism in the central nervous system: role of glutamate dehydrogenase. Advances in neurology, 1984, Volume: 41 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Central Nervous System; Cerebellar Ataxia; Enzyme Activation; gamma-Aminobutyric Acid; Glutamate Dehydrogenase; Glutamate Synthase; Glutamates; Glutamic Acid; Glutamine; Humans; Leucine; Mitochondria; NADP; Nerve Endings; Neuroglia; Rats; Syndrome	1984
Disorders of glutamate metabolism and neurological dysfunction. Annual review of medicine, 1981, Volume: 32 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; gamma-Aminobutyric Acid; Glutamates; Glutamine; Glutathione; Histidine; Humans; Ketoglutaric Acids; Nervous System Diseases; Proline; Pyrrolidonecarboxylic Acid	1981

Other Studies

61 other study(ies) available for glutamine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology. Amino acids, 2022, Volume: 54, Issue:5 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Glutamine; Humans; Hyperammonemia; Ketosis; Propionic Acidemia; Urea	2022
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency. Journal of inherited metabolic disease, 2023, Volume: 46, Issue:1 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
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical genetics, 2020, Volume: 98, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Female; Fetus; Glutamate-Ammonia Ligase; Glutamine; Homozygote; Humans; Infant, Newborn; Male; Metabolic Diseases	2020
Impairment of astrocytic glutaminolysis in glutaric aciduria type I. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Astrocytes; Brain Diseases, Metabolic; Cell Death; Cell Hypoxia; Cell Line; Enzyme Inhibitors; Glutamate Dehydrogenase; Glutamine; Glutarates; Glutaryl-CoA Dehydrogenase; Rats	2018
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Molecular genetics and metabolism, 2018, Volume: 123, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Asparagine; Aspartate-Ammonia Ligase; Binding Sites; Carbon-Nitrogen Ligases with Glutamine as Amide-N-Donor; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Fibroblasts; Glutamine; Homozygote; Humans; Intellectual Disability; Male; Models, Molecular; Mutation; Seizures; Siblings	2018
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. Molecular genetics and metabolism, 2018, Volume: 125, Issue:3 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
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in The New England journal of medicine, 2019, 04-11, Volume: 380, Issue:15 Topics: Amino Acid Metabolism, Inborn Errors; Ataxia; Atrophy; Cerebellum; Child, Preschool; Developmental Disabilities; Female; Genotype; Glutaminase; Glutamine; Humans; Male; Microsatellite Repeats; Mutation; Phenotype; Polymerase Chain Reaction; Whole Genome Sequencing	2019
Secondary NAD+ deficiency in the inherited defect of glutamine synthetase. Journal of inherited metabolic disease, 2015, Volume: 38, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; B-Lymphocytes; Cell Culture Techniques; Dietary Supplements; Fibroblasts; Glutamate-Ammonia Ligase; Glutamine; Humans; Hyperammonemia; NAD; Point Mutation	2015
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. Molecular genetics and metabolism, 2016, Volume: 119, Issue:1-2 Topics: Amino Acid Chloromethyl Ketones; Amino Acid Metabolism, Inborn Errors; Ammonium Compounds; Animals; Apoptosis; Brain Injuries; Caspase 3; Cell Culture Techniques; Citrates; Culture Media; Glutamine; Humans; Neurons; Quinolines; Rats	2016
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet journal of rare diseases, 2012, Jul-25, Volume: 7 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Child; Glutamate-Ammonia Ligase; Glutamine; Humans; Magnetic Resonance Imaging	2012
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. Journal of inherited metabolic disease, 2003, Volume: 26, Issue:1 Topics: Acid-Base Equilibrium; Amino Acid Metabolism, Inborn Errors; Bicarbonates; Biomarkers; Diet, Protein-Restricted; Disease Progression; Follow-Up Studies; Glutamine; Glycine; Humans; Propionates; Propionic Acidemia; Quaternary Ammonium Compounds	2003
ADAPTATION OF MONODIRECTIONAL HIGH-VOLTAGE ELECTROPHORESIS ON LONG PAPERS TO THE RAPID QUALITATIVE IDENTIFICATION OF URINARY AMINO ACIDS. The Journal of laboratory and clinical medicine, 1964, Volume: 63 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis; Glutamine; Metabolic Diseases; Renal Aminoacidurias; Research	1964
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS. Journal of mental deficiency research, 1964, Volume: 8 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatography; Electronic Data Processing; Glutamine; Glycine; Humans; Intellectual Disability; Multivariate Analysis; Renal Aminoacidurias; Serine; Taurine	1964
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM. The Journal of pediatrics, 1964, Volume: 65 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatinine; Cystine; Glutamates; Glutamine; Glycine; Humans; Infant; Intellectual Disability; Mass Screening; Renal Aminoacidurias; Threonine	1964
A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID. The Tohoku journal of experimental medicine, 1964, Aug-25, Volume: 83 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Atrophy; Blood; Brain Diseases; Cerebrospinal Fluid; Chromosomes; Galactose; Genetics, Medical; Glutamates; Glutamic Acid; Glutamine; Growth; Humans; Intellectual Disability; Kidney; Renal Aminoacidurias; Urine	1964
Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency. Neurology, 2004, Mar-23, Volume: 62, Issue:6 Topics: Adult; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Brain; gamma-Aminobutyric Acid; Genes, Recessive; Glutamic Acid; Glutamine; Humans; Hydroxybutyrates; Magnetic Resonance Spectroscopy; Male; Movement Disorders; Predictive Value of Tests; Protons; Reference Values; Seizures; Speech Disorders; Succinate-Semialdehyde Dehydrogenase	2004
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
Congenital glutamine deficiency with glutamine synthetase mutations. The New England journal of medicine, 2005, Nov-03, Volume: 353, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; DNA Mutational Analysis; Fatal Outcome; Female; Glutamate-Ammonia Ligase; Glutamine; Humans; Infant, Newborn; Male; Point Mutation	2005
Metabolic disorders in the center of genetic medicine. The New England journal of medicine, 2005, Nov-03, Volume: 353, Issue:18 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Glutamate-Ammonia Ligase; Glutamic Acid; Glutamine; Homocystinuria; Humans; Hyperhomocysteinemia; Infant, Newborn; Mutation; Phenylketonurias	2005
Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Molecular genetics and metabolism, 2006, Volume: 88, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Glutamic Acid; Glutamine; Humans; Hyperammonemia; Infant; Infant, Newborn; Propionates	2006
Congenital glutamine deficiency with glutamine synthetase mutations. The New England journal of medicine, 2006, Mar-09, Volume: 354, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Glutamate-Ammonia Ligase; Glutamine; Humans	2006
Congenital glutamine deficiency with glutamine synthetase mutations. The New England journal of medicine, 2006, Mar-09, Volume: 354, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Brain Diseases, Metabolic, Inborn; Glutamate-Ammonia Ligase; Glutamine; Humans; Mutation	2006
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease. Analytical biochemistry, 1967, Volume: 20, Issue:2 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; Chromatography, Ion Exchange; Citrates; Cysteine; Cystine; Glutamates; Glutamine; Glycine; Humans; Hydrogen-Ion Concentration; Hydroxyproline; Isoleucine; Phenylalanine; Proline; Sarcosine; Serine; Threonine; Tyrosine; Valine	1967
Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science (New York, N.Y.), 1980, Feb-08, Volume: 207, Issue:4431 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
Increase of Na-K-ATPase activity, glutamate, and aspartate uptake in dog erythrocytes associated with hereditary high accumulation of GSH, glutamate, glutamine, and aspartate. Blood, 1983, Volume: 61, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Aspartic Acid; Dog Diseases; Dogs; Erythrocytes; Female; Glutamates; Glutamine; Glutathione; Male; Ouabain; Sodium-Potassium-Exchanging ATPase	1983
Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria. Journal of inherited metabolic disease, 1983, Volume: 6, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Biological Transport; Cells, Cultured; Citrulline; Fibroblasts; Glutamine; Humans; Mitochondria; Ornithine; Proline; Proteins	1983
Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. The Journal of clinical investigation, 1984, Volume: 74, Issue:6 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
Plasma amino acid pattern at noon in early treated hyperphenylalaninemic, phenylketonuric, and normal children. Annals of nutrition & metabolism, 1983, Volume: 27, Issue:4 Topics: Adolescent; Aging; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Female; Glutamine; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Time Factors	1983
Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites. Advances in experimental medicine and biology, 1982, Volume: 153 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
New approaches to the diagnosis and treatment of inborn errors or urea synthesis. Pediatrics, 1981, Volume: 68, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Argininosuccinic Acid; Citrulline; Glutamine; Hippurates; Humans; Infant; Infant, Newborn; Phenylacetates; Urea	1981
Effect of L-carnitine on cerebral and hepatic energy metabolites in congenitally hyperammonemic sparse-fur mice and its role during benzoate therapy. Metabolism: clinical and experimental, 1993, Volume: 42, Issue:8 Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Benzoates; Benzoic Acid; Body Weight; Brain; Brain Chemistry; Carnitine; Coenzyme A; Dose-Response Relationship, Drug; Energy Metabolism; Genetic Linkage; Glutamates; Glutamic Acid; Glutamine; Hair Diseases; Ketoglutaric Acids; Lactates; Liver; Male; Mice; Mice, Mutant Strains; Ornithine Carbamoyltransferase; Pyruvates; Time Factors; Urea	1993
Magnetic resonance spectroscopy shows increased brain glutamine in ornithine carbamoyl transferase deficiency. Pediatric research, 1993, Volume: 33, Issue:1 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. The Journal of biological chemistry, 1996, Feb-16, Volume: 271, Issue:7 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
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. The Journal of clinical investigation, 1996, Nov-01, Volume: 98, Issue:9 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. American journal of medical genetics, 1996, Dec-18, Volume: 66, Issue:3 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
In vivo measurement of ureagenesis with stable isotopes. Journal of inherited metabolic disease, 1998, Volume: 21 Suppl 1 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. Medicine, 1998, Volume: 77, Issue:6 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
Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. Proceedings of the National Academy of Sciences of the United States of America, 1999, Mar-30, Volume: 96, Issue:7 Topics: Adenoviridae; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Animals, Newborn; Argininosuccinate Synthase; Cattle; Cell Transplantation; Citrulline; Female; Genetic Therapy; Genetic Vectors; Glutamine; Heterozygote; Humans; Liver; Male	1999
The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Female; Glutamine; Humans; Infant, Newborn; Propionates	2000
Arginine therapy of argininosuccinase deficiency. Lancet (London, England), 1979, Jan-20, Volume: 1, Issue:8108 Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Argininosuccinic Aciduria; Erythrocytes; Female; Glutamine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lyases; Ornithine; Quaternary Ammonium Compounds	1979
Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity. Archives of disease in childhood, 1978, Volume: 53, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carbamoyl-Phosphate Synthase (Ammonia); Female; Glutamine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mitochondria, Liver; Phosphotransferases	1978
Treatment of argininosuccinic aciduria with keto analogues of essential amino acids. The American journal of clinical nutrition, 1978, Volume: 31, Issue:10 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Argininosuccinic Acid; Creatinine; Female; Glutamine; Glycine; Humans; Keto Acids; Methylhistidines	1978
Cerebrospinal fluid and plasma glutamine elevation by anticonvulsant drugs: a potential diagnostic and therapeutic trap. Clinica chimica acta; international journal of clinical chemistry, 1976, Jun-15, Volume: 69, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Citrulline; Epilepsy; False Positive Reactions; Female; Glutamine; Humans; Infant; Male; Middle Aged; Ornithine; Phenobarbital; Primidone; Urea	1976
Plasma carnosinase deficiency in patients with urea cycle defects. Clinica chimica acta; international journal of clinical chemistry, 1975, Jun-02, Volume: 61, Issue:2 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carbamyl Phosphate; Carnosine; Child; Child, Preschool; Diet, Vegetarian; Dipeptidases; Glutamine; Humans; Infant; Urea	1975
Hyperglycinemia and propionyl coA carboxylase deficiency and episodic severe illness without consistent ketosis. The Journal of pediatrics, 1975, Volume: 86, Issue:5 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids; Citrates; Coenzyme A; Creatinine; Crotonates; Glutamates; Glutamine; Glycine; Humans; Infant; Ketone Bodies; Ketosis; Ligases; Male; Propionates; Pyrrolidonecarboxylic Acid	1975
Carbamyl phosphate synthetase-1 deficiency discovered after valproic acid-induced coma. Acta neurologica Scandinavica, 1992, Volume: 86, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Atrophy; Carbamoyl-Phosphate Synthase (Ammonia); Coma; Corpus Callosum; Dose-Response Relationship, Drug; Drug Therapy, Combination; Epilepsy, Generalized; Female; Glutamine; Humans; Phenytoin; Tomography, X-Ray Computed; Valproic Acid	1992
Plasma glutamine concentration: a guide in the management of urea cycle disorders. The Journal of pediatrics, 1992, Volume: 121, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Glutamine; Humans; Infant, Newborn; Male; Ornithine Carbamoyltransferase Deficiency Disease; Urea	1992
Brain amino acid reductions in one family with chromosome 6p-linked dominantly inherited olivopontocerebellar atrophy. Annals of neurology, 1991, Volume: 30, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aspartic Acid; Brain Chemistry; Chromosomes, Human, Pair 6; Ethanolamines; gamma-Aminobutyric Acid; Genes, Dominant; Glutamates; Glutamic Acid; Glutamine; Humans; Middle Aged; Olivopontocerebellar Atrophies; Taurine	1991
[The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia]. Rinsho shinkeigaku = Clinical neurology, 1991, Volume: 31, Issue:7 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Astrocytes; Circadian Rhythm; Citrulline; Consciousness; Glutamine; Humans; Hydrocortisone; Male; Receptors, Glucocorticoid	1991
Quantitative analysis of urinary pyroglutamic acid in patients with hyperammonemia. Clinica chimica acta; international journal of clinical chemistry, 1991, Mar-29, Volume: 197, Issue:3 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
Neonatal hemodialysis: effective therapy for the encephalopathy of inborn errors of metabolism. The Journal of pediatrics, 1990, Volume: 116, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Ammonia; Argininosuccinate Synthase; Brain Diseases, Metabolic; Female; Glutamine; Humans; Infant, Newborn; Keto Acids; Ligases; Male; Maple Syrup Urine Disease; Renal Dialysis	1990
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Citrulline; Dietary Proteins; Glutamine; Humans; Infant; Male; Ornithine; Pyrimidines	1986
Waste nitrogen excretion via amino acid acylation: benzoate and phenylacetate in lysinuric protein intolerance. Pediatric research, 1986, Volume: 20, Issue:11 Topics: Acylation; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Benzoates; Benzoic Acid; Child; Child, Preschool; Creatinine; Glutamine; Hippurates; Humans; Lysine; Nitrogen; Orotic Acid; Phenylacetates; Urea	1986
Argininosuccinic aciduria in hereditary hair diseases. Acta dermato-venereologica, 1968, Volume: 48, Issue:6 Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glutamates; Glutamine; Glycine; Hair; Histidine; Humans; Infant; Lysine; Male; Middle Aged; Serine; Skin Diseases; Threonine; Tyrosine; Valine	1968
Amino acid abnormality in Sjögren-Larsson syndrome. Archives of neurology, 1973, Volume: 28, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine	1973
A reappraisal of the concept of an abnormality of glutamine metabolism in primary gout. Transactions of the American Clinical and Climatological Association, 1973, Volume: 84 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Benzoates; Carbon Isotopes; Diet; Glutamine; Glycine; Gout; Hippurates; Humans; Kinetics; Male; Middle Aged; Models, Chemical; Nitrogen Isotopes; Phenylacetates; Sodium; Uric Acid	1973
Abnormal orotic acid metabolism associated with acute hyperammonaemia in the rat. Biochemical medicine, 1974, Volume: 9, Issue:1 Topics: Acetates; Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Carbon Radioisotopes; Carboxy-Lyases; Chromatography, Ion Exchange; Chromatography, Paper; Disease Models, Animal; Electrophoresis, Paper; Glutamates; Glutamine; Hydrogen-Ion Concentration; Liver; Male; Mass Spectrometry; Orotic Acid; Pentosyltransferases; Purine Nucleotides; Quaternary Ammonium Compounds; Rats; Time Factors; Uracil Nucleotides	1974
Hyperprolinemia type II. Clinical biochemistry, 1974, Volume: 7, Issue:1 Topics: Alanine Transaminase; Alkaline Phosphatase; Amino Acid Metabolism, Inborn Errors; Amino Acids; Asparagine; Aspartate Aminotransferases; Blood Protein Electrophoresis; Body Height; Body Weight; Borohydrides; Child; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Paper; Creatinine; Electroencephalography; Female; Glutamine; Humans; Immunoglobulin A; Immunoglobulin G; L-Lactate Dehydrogenase; Male; Proline; Spectrophotometry; Spectrophotometry, Ultraviolet	1974
Amino acid, creatine and creatinine studies in myotonic dystrophy. Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 39, Issue:2 Topics: Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Creatinine; Erythrocytes; Female; Glutamine; Glycine; Hemolysis; Humans; Male; Membranes; Middle Aged; Myotonic Dystrophy; Ornithine; Permeability; Serine; Threonine	1972
[Endogenous pellagra without hyperaminoaciduria]. Revue neurologique, 1969, Volume: 120, Issue:3 Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Arginine; Chromatography, Paper; Diagnosis, Differential; Electroencephalography; Glutamates; Glutamine; Hartnup Disease; Histidine; Humans; Lysine; Male; Pellagra; Serine; Skin Manifestations; Threonine	1969
Familial protein intolerance. Possible nature of enzyme defect. The New England journal of medicine, 1971, May-06, Volume: 284, Issue:18 Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Transport; Blood Cell Count; Blood Glucose; Blood Urea Nitrogen; Bone Diseases; Brain Diseases; Dietary Proteins; Female; Glutaminase; Glutamine; Hemoglobins; Humans; Intellectual Disability; Kidney; Kidney Function Tests; Lysine; Metabolism, Inborn Errors; Nitrogen; Proteins; Specific Gravity; Urea; Urine	1971