glutamine and Inborn Errors of Metabolism

glutamine has been researched along with Inborn Errors of Metabolism in 23 studies

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199013 (56.52)18.7374
1990's4 (17.39)18.2507
2000's3 (13.04)29.6817
2010's2 (8.70)24.3611
2020's1 (4.35)2.80

Authors

AuthorsStudies
Aebersold, R; Baumgartner, MR; Bingisser, A; Bonilla, X; Bürer, C; Cherkaoui, S; Dermitzakis, ET; Forny, M; Forny, P; Frei, C; Froese, DS; Goetze, S; Harshman, K; Howald, C; Lamparter, D; Morscher, RJ; Pedrioli, PGA; Plessl, T; Poms, M; Rätsch, G; Shao, W; Simmons, L; Traversi, F; van Drogen, A; Wollscheid, B; Xenarios, I; Zamboni, N1
Gaillard, WD; Gropman, AL; Massaro, A; Prust, M; Tsuchida, TN; Vezina, G; Wiwattanadittakul, N1
Bhutia, YD; Ganapathy, V1
Enns, GM1
Clay, AS; Hainline, BE1
Batshaw, ML; Heyes, MP; Hopkins, K; McLaughlin, BA; Oster-Granite, ML; Robinson, MB1
Tuchman, M; Yudkoff, M1
Beaudet, AL; Jahoor, F; Lee, B; O'Brien, W; Reeds, P; Yu, H1
Mori, A1
Meister, A1
Brusilow, SW1
Knopman, DS; Shih, VE; Tuchman, M1
Harper, PS1
Sperling, O; Starmer, CF; Wyngaarden, JB1
Gutman, AB; Yu, TF1
Ambrose, JA1
Iivanainen, M; Palo, J; Savolainen, H1
Burgess, EA; Butler, LJ; Levin, B; Oberholzer, VG; Palmer, T1
Börresen, HC; Eldjarn, L; Jellum, E; Kluge, T; Stokke, O1
Jagenburg, R; Lindstedt, G; Malmquist, J1
Andrassy, K; Egbring, R; Egli, H1
Baumgartner, R; Hottinger, A; Scheidegger, S; Stalder, G1
Burgess, EA; Dobbs, RH; Levin, B; Palmer, T1

Reviews

5 review(s) available for glutamine and Inborn Errors of Metabolism

ArticleYear
Glutamine transporters in mammalian cells and their functions in physiology and cancer.
    Biochimica et biophysica acta, 2016, Volume: 1863, Issue:10

    Topics: Animals; Biological Transport, Active; Carrier Proteins; Cell Membrane; Glutamine; Humans; Mammals; Metabolism, Inborn Errors; Mice; Mice, Knockout; Molecular Targeted Therapy; Multigene Family; Neoplasm Proteins; Neoplasms; Substrate Specificity

2016
Neurologic damage and neurocognitive dysfunction in urea cycle disorders.
    Seminars in pediatric neurology, 2008, Volume: 15, Issue:3

    Topics: Brain Edema; Carbamoyl-Phosphate Synthase I Deficiency Disease; Cognition Disorders; Glutamine; Humans; Metabolism, Inborn Errors; Mitochondria; Seizures; Urea

2008
Hyperammonemia in the ICU.
    Chest, 2007, Volume: 132, Issue:4

    Topics: Acute Disease; Algorithms; Ammonia; Astrocytes; Brain; Brain Edema; Cerebral Hemorrhage; Critical Care; Glutamine; Humans; Hyperammonemia; Hypothermia, Induced; Intensive Care Units; Liver; Liver Failure, Acute; Liver Function Tests; Metabolism, Inborn Errors; Muscle, Skeletal; Urea

2007
[Inborn errors of metabolism and neurotransmitters].
    Nihon rinsho. Japanese journal of clinical medicine, 1978, Volume: 36, Issue:1

    Topics: Catecholamines; Glutamine; Humans; Metabolism, Inborn Errors; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Serotonin

1978
Function of glutathione in kidney via the gamma-glutamyl cycle.
    The Medical clinics of North America, 1975, Volume: 59, Issue:3

    Topics: Acyltransferases; Adult; Amino Acids; Animals; Cysteine; Dipeptidases; gamma-Glutamylcyclotransferase; gamma-Glutamyltransferase; Glutamates; Glutaminase; Glutamine; Glutathione; Glycine; Humans; Kidney; Male; Metabolism, Inborn Errors; Peptide Synthases; Pyroglutamate Hydrolase; Pyrrolidonecarboxylic Acid; Transaminases

1975

Other Studies

18 other study(ies) available for glutamine and Inborn Errors of Metabolism

ArticleYear
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
    Nature metabolism, 2023, Volume: 5, Issue:1

    Topics: Animals; Glutamine; Metabolism, Inborn Errors; Methylmalonyl-CoA Mutase; Mice; Multiomics

2023
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
Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse.
    Brain research. Developmental brain research, 1995, Dec-21, Volume: 90, Issue:1-2

    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
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
    Molecular genetics and metabolism, 1999, Volume: 66, Issue:1

    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
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle.
    Proceedings of the National Academy of Sciences of the United States of America, 2000, Jul-05, Volume: 97, Issue:14

    Topics: Adolescent; Adult; Age of Onset; Ammonia; Child; Child, Preschool; Diet, Protein-Restricted; Female; Glutamine; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Nitrogen Isotopes; Proteins; Urea

2000
Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion.
    Pediatric research, 1991, Volume: 29, Issue:2

    Topics: Adolescent; Child; Child, Preschool; Female; Glutamine; Humans; Infant; Male; Metabolism, Inborn Errors; Nitrogen; Phenylacetates; Phenylbutyrates; Urea

1991
Episodic hyperammonemia in adult siblings with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
    Archives of neurology, 1990, Volume: 47, Issue:10

    Topics: Adult; Ammonia; Citrulline; Female; Fibroblasts; Glutamine; Humans; Leucine; Male; Metabolism, Inborn Errors; Ornithine; Phenylbutyrates; Recurrence; Syndrome; Urea

1990
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
    Acta Universitatis Carolinae. Medica. Monographia, 1973, Volume: 56

    Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias

1973
The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout.
    The Journal of clinical investigation, 1973, Volume: 52, Issue:10

    Topics: Adenosine Triphosphate; Adolescent; Adult; Carbon Isotopes; Glutamine; Glycine; Gout; Guanine; Hippurates; Humans; Hypoxanthines; Kinetics; Liver; Male; Mathematics; Metabolism, Inborn Errors; Middle Aged; Nitrogen Isotopes; ortho-Aminobenzoates; Pentosephosphates; Pentosyltransferases; Phenylacetates; Phosphoric Acids; Phosphotransferases; Purines; Uric Acid

1973
Hyperglutamatemia in primary gout.
    The American journal of medicine, 1973, Volume: 54, Issue:6

    Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Serine; Threonine; Uric Acid

1973
Analysis of the "report on a cooperative study of various fluorometric procedures and the Guthrie Bacterial Inhibition Assay in the determination of hyperphenylalaninemia" and the significance of this study in the detection, diagnosis, and management of p
    Health laboratory science, 1973, Volume: 10, Issue:3

    Topics: Age Factors; Autoanalysis; Diet Therapy; Fluorometry; Glutamates; Glutamine; Humans; Infant Nutrition Disorders; Infant, Newborn; Infant, Premature; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Quality Control; Tyrosine

1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
    Journal of mental deficiency research, 1973, Volume: 17, Issue:2

    Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine

1973
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.
    Archives of disease in childhood, 1974, Volume: 49, Issue:6

    Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; Glutamates; Glutamine; Glycine; Humans; Leucine; Liver; Lysine; Male; Metabolism, Inborn Errors; Ornithine; Ornithine Carbamoyltransferase; Sex Chromosomes

1974
Pyroglutamic aciduria--a new inborn error of metabolism.
    Scandinavian journal of clinical and laboratory investigation, 1970, Volume: 26, Issue:4

    Topics: Acidosis; Adult; Amino Acids; Brain Damage, Chronic; Chromatography, Gas; Chromatography, Ion Exchange; Creatinine; Glutamates; Glutamine; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Pyrrolidines; Spectrum Analysis; Urea

1970
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
[Plasma transglutaminase activity in congenital total and partial factor XIII deficiency (a contribution to the problem of factor XIII determination)].
    Thrombosis et diathesis haemorrhagica, 1971, Volume: 25, Issue:1

    Topics: Blood Platelets; Carbon Isotopes; Factor XIII; Female; Glutamine; Humans; Metabolism, Inborn Errors; Pedigree; Transaminases

1971
[Argininosuccinic aciduria disease of the newborn with lethal course].
    Helvetica paediatrica acta, 1968, Volume: 23, Issue:1

    Topics: Adult; Alanine; Amino Acids; Aminobutyrates; Anticonvulsants; Aspartic Acid; Brain Diseases; Chromatography, Ion Exchange; Chromatography, Thin Layer; Erythrocytes; Female; Glutamine; Hepatomegaly; Humans; Infant, Newborn; Kidney Diseases; Lyases; Male; Metabolism, Inborn Errors; Myocardium; Seizures; Succinates; Transaminases

1968
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
    Archives of disease in childhood, 1969, Volume: 44, Issue:234

    Topics: Alanine; Amino Acids; Ammonia; Arginine; Citrates; Citric Acid Cycle; Diet Therapy; Dietary Proteins; Glutamine; Humans; Infant; Intellectual Disability; Liver; Male; Metabolism, Inborn Errors; Ornithine Carbamoyltransferase; Proteins; Pyrimidines; Vomiting

1969