Page last updated: 2024-08-17

nad and Amino Acid Metabolism Disorders, Inborn

nad has been researched along with Amino Acid Metabolism Disorders, Inborn in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19904 (33.33)18.7374
1990's1 (8.33)18.2507
2000's2 (16.67)29.6817
2010's4 (33.33)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Ambrus, A; Houten, SM; Jordan, F; Leandro, J; Nagy, B; Nemeria, NS; Sanchez, R; Zhang, X1
Fu, X; Gao, H; Gao, J; Liang, Y; Lou, L; Luo, X; Ning, Q; Tian, F1
Ben-Omran, T; Chaudhry, FA; Frapolli, M; Görg, B; Häberle, J; Häussinger, D; Hu, L; Ibrahim, K; Penberthy, WT; Shahbeck, N; Stucki, M1
Amaral, AU; de Souza, DO; Goodman, SI; Leipnitz, G; Rodrigues, MD; Seminotti, B; Wajner, M; Woontner, M1
Rzem, R; Van Schaftingen, E; Veiga-da-Cunha, M1
Becker, DF; Henzl, MT; Moxley, MA; Singh, RK; Srivastava, D; Tanner, JJ1
Inagaki, E; Kuroishi, C; Ohshima, N; Tahirov, TH; Takahashi, H; Yokoyama, S1
Gibson, KM; Hanefeld, F; Jakobs, C; Nyhan, WL; Rating, D; Siemes, H; Sweetman, L1
Ben Dridi, MF; Kaabachi, N; Khiari, D; Mebazaa, A; Tebib, N1
Bürgi, W; Colombo, JP; Richterich, R1
Smith, LH; Williams, HE1
Goodman, SI; Phang, JM; Valle, DL1

Reviews

2 review(s) available for nad and Amino Acid Metabolism Disorders, Inborn

ArticleYear
L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
    Journal of inherited metabolic disease, 2009, Volume: 32, Issue:2

    Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Flavin-Adenine Dinucleotide; Glutarates; Humans; NAD; Nervous System Diseases

2009
[The contribution of the laboratory in the diagnosis of hereditary intermediate metabolism disorders].
    La Tunisie medicale, 1995, Volume: 73, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Chromatography; Clinical Laboratory Techniques; Fatty Acids; Humans; Metabolism, Inborn Errors; NAD; NADP; Oxidation-Reduction

1995

Other Studies

10 other study(ies) available for nad and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.
    International journal of molecular sciences, 2022, Jul-26, Volume: 23, Issue:15

    Topics: Amino Acid Metabolism, Inborn Errors; Humans; Ketoglutarate Dehydrogenase Complex; Lysine; NAD; Oxidation-Reduction

2022
Mechanistic effects of amino acids and glucose in a novel glutaric aciduria type 1 cell model.
    PloS one, 2014, Volume: 9, Issue:10

    Topics: Adenosine Triphosphate; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Animals, Newborn; Apoptosis; Apoptosis Regulatory Proteins; Brain Diseases, Metabolic; Cell Culture Techniques; Cell Survival; Cells, Cultured; Citric Acid Cycle; Corpus Striatum; Flow Cytometry; Gene Expression; Glucose; Glutaryl-CoA Dehydrogenase; NAD; Neurons; Rats

2014
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
Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology.
    Journal of the neurological sciences, 2015, Dec-15, Volume: 359, Issue:1-2

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases, Metabolic; Brain Injuries; Catalase; Disease Models, Animal; Excitatory Amino Acid Transporter 2; Fluoresceins; Gene Expression Regulation; Glucosephosphate Dehydrogenase; Glutaryl-CoA Dehydrogenase; Glutathione; Glutathione Peroxidase; Glutathione Reductase; Malondialdehyde; Mice; Mice, Transgenic; NAD; Receptors, N-Methyl-D-Aspartate; Sulfhydryl Compounds; Superoxide Dismutase

2015
The three-dimensional structural basis of type II hyperprolinemia.
    Journal of molecular biology, 2012, Jul-13, Volume: 420, Issue:3

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Substitution; Animals; Catalytic Domain; Crystallography, X-Ray; Humans; Hydrogen Bonding; Leucine; Mice; Mutation; NAD; Protein Conformation; Protein Folding; Serine

2012
Crystal structure of Thermus thermophilus Delta1-pyrroline-5-carboxylate dehydrogenase.
    Journal of molecular biology, 2006, Sep-22, Volume: 362, Issue:3

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Catalytic Domain; Crystallography, X-Ray; Dimerization; Humans; Kinetics; Models, Molecular; Molecular Sequence Data; NAD; Proline; Protein Folding; Protein Structure, Quaternary; Protein Subunits; Sequence Homology, Amino Acid; Static Electricity; Thermus thermophilus

2006
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1983, Sep-15, Volume: 133, Issue:1

    Topics: 4-Aminobutyrate Transaminase; Adult; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Female; gamma-Aminobutyric Acid; Humans; Lymphocytes; Male; Methylmalonyl-CoA Decarboxylase; NAD; Succinate-Semialdehyde Dehydrogenase

1983
L-Lysine dehydrogenase deficiency in a patient with congenital lysine intolerance.
    Nature, 1966, Aug-20, Volume: 211, Issue:5051

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Cysteine; Humans; In Vitro Techniques; Liver; Lysine; NAD

1966
Hyperoxaluria in L-glyceric aciduria: possible pathogenic mechanism.
    Science (New York, N.Y.), 1971, Jan-29, Volume: 171, Issue:3969

    Topics: Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Animals; Carbon Isotopes; Cattle; Chromatography, Ion Exchange; Erythrocytes; Glyceric Acids; Glycolates; Glyoxylates; Humans; L-Lactate Dehydrogenase; Leukocytes; Liver; Myocardium; NAD; Oxalates; Pyruvates; Rabbits; Rats; Stereoisomerism; Stimulation, Chemical

1971
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity.
    Science (New York, N.Y.), 1974, Sep-20, Volume: 185, Issue:4156

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carbon Radioisotopes; Carboxylic Acids; Child, Preschool; Female; Fibroblasts; Glutamates; Humans; Male; NAD; Ornithine; Oxidoreductases; Proline; Pyrroles

1974