glutamine and BH4 Deficiency

glutamine has been researched along with BH4 Deficiency in 29 studies

Research

Studies (29)

TimeframeStudies, this research(%)All Research%
pre-199024 (82.76)18.7374
1990's1 (3.45)18.2507
2000's1 (3.45)29.6817
2010's3 (10.34)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Desviat, LR; Djordjevic, M; Klaassen, K; Pavlovic, S; Perez, B; Skakic, A; Stojiljkovic, M1
Breuer, M; Carl, M; Guglielmi, L; Hemberger, V; Hoffmann, GF; Kölker, S; Okun, JG; Opladen, T; Sauer, SW; Zielonka, M1
HARRIS, MM; HARRIS, RS; ROTH, RT1
Gioni, V; Kalogerakou, M; Papassotiriou, I; Papastamataki, M; Schulpis, KH1
BESSMAN, SP; MEISTER, A; UDENFRIEND, S1
ARAKI, M; OURA, T1
DAVID, JM1
TSUKADA, Y2
Levy, HL1
Araki, M1
Grüttner, R; Held, KR; Koepp, P; Plettner, C1
Mori, A1
Peck, H; Pollitt, RJ1
Brouwer, M; Kamerling, JP; Ketting, D; Wadman, SK1
Koch, R; Schaeffler, G; Shaw, NF1
Duc, G; Gitzelmann, R; Steinmann, B; Superti-Furga, A1
Bell, EF; Brummel, MC; Filer, LJ; Krause, WL; Stegink, LD; Wolf-Novak, LC; Ziegler, EE1
Harper, PS1
Ambrose, JA1
Howell, RR; Stevenson, RE1
Perry, TL1
Hill, A; Macaulay, J; Zaleski, WA1
Colombo, JP1
Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B1
Scriver, CR1
Cone, AL; Dierks-Ventling, C1
McKean, CM; Peterson, NA1
Berman, JL; Hsia, DY; O'Flynn, ME; Partington, MW; Vickery, SK; Wong, PW1

Reviews

2 review(s) available for glutamine and BH4 Deficiency

ArticleYear
[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
The offspring of phenylketonuric women.
    Social biology, 1971, Volume: 18

    Topics: Abortion, Spontaneous; Adult; Birth Weight; Black or African American; Brain Chemistry; Breast Feeding; Child, Preschool; Congenital Abnormalities; Diet Therapy; Female; Glutamine; Heart Auscultation; Heterozygote; Hexokinase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Male; Maryland; Microcephaly; Myelin Sheath; Nerve Tissue Proteins; Phenylacetates; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Prenatal Care; Pyruvate Kinase; Umbilical Cord

1971

Trials

1 trial(s) available for glutamine and BH4 Deficiency

ArticleYear
Aspartame-sweetened beverage: effect on plasma amino acid concentrations in normal adults and adults heterozygous for phenylketonuria.
    The Journal of nutrition, 1987, Volume: 117, Issue:11

    Topics: Adult; Amino Acids; Asparagine; Aspartame; Aspartic Acid; Beverages; Biological Transport; Dipeptides; Female; Glutamates; Glutamic Acid; Glutamine; Heterozygote; Humans; Kinetics; Male; Phenylalanine; Phenylketonurias; Tyrosine

1987

Other Studies

26 other study(ies) available for glutamine and BH4 Deficiency

ArticleYear
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
    Biochemical genetics, 2018, Volume: 56, Issue:5

    Topics: Biopterins; Cell Line, Tumor; Glutamine; Humans; Lysine; Models, Biological; Models, Molecular; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Structure, Tertiary; Sequence Analysis, DNA

2018
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.
    PloS one, 2019, Volume: 14, Issue:4

    Topics: Animals; Cell Proliferation; Dihydropteridine Reductase; Disease Models, Animal; Gene Knockdown Techniques; Glutamine; Humans; Melanins; Neuroglia; Phenylketonurias; Zebrafish; Zebrafish Proteins

2019
Studies regarding glutamine and ammonia in the cerebrospinal fluid of patients with nervous and mental diseases (with some observations on insulin hypoglycemic shock and oligophrenia phenylpyruvica).
    The Journal of nervous and mental disease, 1945, Volume: 102

    Topics: Ammonia; Cerebrospinal Fluid; Glutamine; Humans; Hypoglycemic Agents; Insulin; Intellectual Disability; Mental Disorders; Nervous System Diseases; Neurotic Disorders; Phenylketonurias; Psychopathology; Psychotic Disorders

1945
Glutamine, ornithine, citrulline and arginine levels in children with phenylketonuria: The diet effect.
    Clinical biochemistry, 2011, Volume: 44, Issue:10-11

    Topics: Arginine; Case-Control Studies; Child; Citrulline; Diet; Female; Glutamine; Humans; Male; Nutritional Status; Ornithine; Phenylketonurias

2011
Diminished phenylketonuria in phenylpyruvic oligophrenia after administration of L-glutamine, L-glutamate or L-asparagine.
    The Journal of clinical investigation, 1956, Volume: 35, Issue:6

    Topics: Asparagine; Body Fluids; Glutamic Acid; Glutamine; Humans; Intellectual Disability; Ketones; Phenylketonurias; Urine

1956
[CLINICAL BIOCHEMICAL STUDIES ON PHENYLKETONURIA].
    Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica, 1963, Oct-01, Volume: 67

    Topics: Biomedical Research; Child; Cyproheptadine; Diet; Diet Therapy; Glutamine; Humans; Infant; Phenylketonurias

1963
[RECENT KNOWLEDGE ABOUT THE PROBLEM OF PHENYLPYRUVIC OLIGOPHRENIA. FREQUENCY, GENETICS, BIOCHEMISTRY, DIAGNOSIS, AND THERAPEUTICS].
    La Semana medica, 1963, Oct-14, Volume: 123

    Topics: Asparagine; Biochemistry; Diet; Diet Therapy; Genetics, Medical; Glutamine; Humans; Knowledge; Nialamide; Pathology; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Prognosis; Urine

1963
[AMINO ACID METABOLISM IN THE BRAIN AND BEHAVIORAL CHANGES].
    No to shinkei = Brain and nerve, 1964, Volume: 16

    Topics: Amino Acids; Aminobutyrates; Ammonia; Animals; Aspartic Acid; Behavior, Animal; Brain; Carbon Isotopes; Conditioning, Classical; Glutamates; Glutamine; Guinea Pigs; Phenylketonurias; Proteins; Rats; Reflex; Research

1964
[BIOCHEMICAL STUDIES ON EXPERIMENTAL PHENYLKETONURIA].
    No to shinkei = Brain and nerve, 1964, Volume: 16

    Topics: Amino Acids; Animals; Aspartic Acid; Diet; Discrimination Learning; Glutamine; Haplorhini; Phenylalanine; Phenylketonurias; Pyruvates; Rabbits; Rats; Research; Tyrosine

1964
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
[Neuropsychiatric study on the effects of low-phenylalanine diet in phenylketonuria. 2. Experiments on the metabolism associated with the central nervous system disorder of phenylketonuria].
    Nihon Shonika Gakkai zasshi. Acta paediatrica Japonica, 1966, Volume: 70, Issue:11

    Topics: Child; Child, Preschool; Cyproheptadine; Diet Therapy; Female; Glutamine; Humans; Hydroxyindoleacetic Acid; Infant; Male; Phenylalanine; Phenylketonurias; Tryptophan

1966
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
The occurrence of gamma-glutamylphenylalanine in the urine of newborn phenylketonurics.
    Clinica chimica acta; international journal of clinical chemistry, 1979, Jun-15, Volume: 94, Issue:3

    Topics: Creatinine; Dipeptides; Glutamine; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias

1979
Gas chromatography of urinary N-phenylacetylglutamine.
    Journal of chromatography, 1979, Oct-11, Volume: 164, Issue:2

    Topics: Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Glutamine; Humans; Phenylketonurias

1979
Results of loading doses of aspartame by two phenylketonuric (PKU) children compared with two normal children.
    Journal of toxicology and environmental health, 1976, Volume: 2, Issue:2

    Topics: Adolescent; Aspartame; Child; Dipeptides; Female; Glutamine; Humans; Male; Phenylacetates; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Tyrosine

1976
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
    European journal of pediatrics, 1991, Volume: 150, Issue:7

    Topics: Adult; Arginine; Base Sequence; Female; Glutamine; Homozygote; Humans; Infant; Infant, Newborn; Male; Microcephaly; Molecular Sequence Data; Mothers; Mutation; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias

1991
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
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
Phenylketonuria and glutamine.
    The New England journal of medicine, 1970, Jun-25, Volume: 282, Issue:26

    Topics: Animals; Disease Models, Animal; Glutamine; Haplorhini; Humans; Intellectual Disability; Phenylketonurias; Rats

1970
Plasma glutamine in phenylketonuria.
    Clinical biochemistry, 1972, Volume: 5, Issue:3

    Topics: Drug Stability; Glutamine; Humans; Methods; Phenylketonurias; Time Factors

1972
Plasma glutamine in a phenylketonuric family with normal and mentally defective members.
    Archives of disease in childhood, 1971, Volume: 46, Issue:249

    Topics: Adolescent; Adult; Electroencephalography; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Male; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids

1971
Glutamine depletion in phenylketonuria. A possible cause of the mental defect.
    The New England journal of medicine, 1970, 04-02, Volume: 282, Issue:14

    Topics: Adult; Amino Acids; Diet Therapy; Female; Glutamine; Humans; Intellectual Disability; Intelligence; Intelligence Tests; Male; Phenylalanine; Phenylketonurias; Tryptophan

1970
Phenylketonuria: the glutamine hypothesis.
    The New England journal of medicine, 1970, Apr-02, Volume: 282, Issue:14

    Topics: Adult; Amino Acids; Brain; Diet Therapy; Glutamine; Humans; Infant; Intellectual Disability; Intelligence; Phenylketonurias

1970
Phenylketonuria and glutamine.
    The New England journal of medicine, 1970, Jun-25, Volume: 282, Issue:26

    Topics: Animals; Disease Models, Animal; Female; Glutamates; Glutamine; Humans; Infant, Newborn; Intellectual Disability; Phenylketonurias; Placenta; Pregnancy; Rats

1970
Glutamine in the phenylketonuric central nervous system.
    The New England journal of medicine, 1970, Dec-17, Volume: 283, Issue:25

    Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female; Glutamine; Histidine; Humans; Intellectual Disability; Intelligence Tests; Male; Middle Aged; Phenylketonurias; Serine; Threonine; Tyrosine

1970
Glutamine in pku.
    The New England journal of medicine, 1971, Sep-02, Volume: 285, Issue:10

    Topics: Autoanalysis; Chromatography, Ion Exchange; Fluorometry; Glutamine; Humans; Intellectual Disability; Phenylalanine; Phenylketonurias

1971