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nad and Inborn Errors of Metabolism

nad has been researched along with Inborn Errors of Metabolism in 34 studies

Research

Studies (34)

TimeframeStudies, this research(%)All Research%
pre-199027 (79.41)18.7374
1990's3 (8.82)18.2507
2000's2 (5.88)29.6817
2010's2 (5.88)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vander Heiden, MG1
Berry, GT1
Isaya, G; Rustin, P; Vaubel, RA1
JAFFE, ER; NEURMANN, G1
Bar-Meir, M; Belaiche, C; Elpeleg, O; Miller, C; Saada, A1
Beaudet, AL; Francois, B; Peterson, DF; Robinson, BH; Taylor, J1
Bennett, MJ; Burlina, AB; Gibson, KM; Sherwood, WG1
Ben Dridi, MF; Kaabachi, N; Khiari, D; Mebazaa, A; Tebib, N1
Micheli, V; Ricci, C; Simmonds, HA1
Cohen, HJ; Whitin, JC1
Scriver, CR1
Goodyer, P; Lancaster, G; McKay, N; Robinson, BH1
Beutler, E2
Buc, HA; Cartier, P; Garreau, H; Leroux, JP; Marchand, JC1
Kaneko, JJ1
Bigley, RH; Campos, JO; Koler, RD1
Goldman, AS1
Avigan, J; Blass, JP; Uhlendorf, BW1
Beutler, E; Hanzlickova-Leroux, A; Kaplan, JC; Nicolas, AM1
Hohenwallner, W; Kurz, R1
Rogers, LE1
Marković, O; Mijatović, B; Stanulović, M1
Hsieh, HS; Jaffe, ER1
De Vries, A; Fajnholc, NE; Kaminsky, E; Machtey, I1
Davies, HE; Lay, H1
Gibbs, DA; Watts, RW1
Hoede, N; Holzmann, H; Morsches, B1
Grenier, A; Laberge, C1
Faber, K; Heni, F; Schmidt, K1
Kerppola, W1
Waller, HD1
Fritz, IB; Halperin, ML; Schiller, CM1
Arese, P; Bosia, A; Gallo, E; Mazza, U; Pescarmona, GP1

Reviews

7 review(s) available for nad and Inborn Errors of Metabolism

ArticleYear
[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
Disorders of respiratory burst termination.
    Hematology/oncology clinics of North America, 1988, Volume: 2, Issue:2

    Topics: Acatalasia; Animals; Female; Glutathione Peroxidase; Glutathione Reductase; Glutathione Synthase; Humans; Male; Metabolism, Inborn Errors; NAD; NADH, NADPH Oxidoreductases; NADPH Oxidases; Neutrophils; Oxygen Consumption; Peroxidase; Phagocytosis; Rats; Superoxides

1988
Vitamins: an evolutionary perspective.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 1

    Topics: Adaptation, Biological; Alcohol Dehydrogenase; Alcohol Oxidoreductases; Animals; Biological Evolution; Coenzymes; Homeostasis; Humans; Metabolism, Inborn Errors; Mutation; NAD; Phenotype; Vitamins

1985
Comparative erythrocyte metabolism.
    Advances in veterinary science and comparative medicine, 1974, Volume: 18, Issue:0

    Topics: Adenosine Triphosphate; Animals; Blood Glucose; Cats; Cattle; Diphosphoglyceric Acids; Dogs; Erythrocytes; Glucosephosphate Dehydrogenase; Glucosephosphates; Glycolysis; Goats; Guinea Pigs; Heinz Bodies; Hemoglobins; Hemolysis; Hexokinase; Horses; Humans; Metabolism, Inborn Errors; NAD; NADP; Oxidative Phosphorylation; Oxygen; Pentosephosphates; Primates; Rabbits; Rats; Sheep; Swine

1974
DPNH-methemoglobin reductase deficiency and hereditary methemoglobinemia.
    Seminars in hematology, 1971, Volume: 8, Issue:4

    Topics: Cyanosis; Electrophoresis; Erythrocytes; Genetic Variation; Hemoglobins; Humans; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; NAD; Oxidation-Reduction; Oxidoreductases

1971
[Etiopathogenesis of the psoriatic disease].
    Die Medizinische Welt, 1973, Mar-23, Volume: 24, Issue:12

    Topics: Alcohol Drinking; Androsterone; Cell Membrane Permeability; Environment; Erythrocytes; Glucosephosphate Dehydrogenase; Humans; Hydroxysteroid Dehydrogenases; Metabolism, Inborn Errors; NAD; Pentosephosphates; Psoriasis; Psychophysiologic Disorders

1973
Disorders due to enzyme defects in the red blood cell.
    Advances in metabolic disorders, 1972, Volume: 60

    Topics: Adenosine Triphosphatases; Anemia, Hemolytic; Carbohydrate Epimerases; Dihydrolipoamide Dehydrogenase; Erythrocytes; Fructose-Bisphosphate Aldolase; Glucose-6-Phosphate Isomerase; Glucosephosphate Dehydrogenase; Glutathione; Glutathione Reductase; Glyceraldehyde-3-Phosphate Dehydrogenases; Hexokinase; Humans; Isomerases; L-Lactate Dehydrogenase; Metabolism, Inborn Errors; NAD; Peroxidases; Phosphofructokinase-1; Phosphoglucomutase; Phosphoglycerate Kinase; Phosphopyruvate Hydratase; Phosphoric Monoester Hydrolases; Phosphotransferases; Pyruvate Kinase

1972

Trials

1 trial(s) available for nad and Inborn Errors of Metabolism

ArticleYear
Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:3

    Topics: Acidosis; Acids; Biomarkers; Electron Transport; Humans; Metabolism, Inborn Errors; NAD; Oxidoreductases

1993

Other Studies

26 other study(ies) available for nad and Inborn Errors of Metabolism

ArticleYear
Metabolism and Congenital Malformations - NAD's Effects on Development.
    The New England journal of medicine, 2017, Aug-10, Volume: 377, Issue:6

    Topics: Animals; Congenital Abnormalities; Humans; Metabolism, Inborn Errors; Mice; Mutation; NAD; Syndrome

2017
The unexplored potential of the pentose phosphate pathway in health and disease.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:6

    Topics: Aldose-Ketose Isomerases; Chromatography, Liquid; Humans; Mass Spectrometry; Metabolism, Inborn Errors; NAD; NADP; Oxidation-Reduction; Pentose Phosphate Pathway; Transaldolase

2008
Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
    The Journal of biological chemistry, 2011, Nov-18, Volume: 286, Issue:46

    Topics: Cells, Cultured; Dihydrolipoamide Dehydrogenase; Enzyme Stability; Female; Fibroblasts; Humans; Male; Metabolism, Inborn Errors; Mutation, Missense; NAD; Oxidative Stress; Protein Multimerization; Protein Structure, Tertiary; Proteolysis; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins

2011
A COMPARISION OF THE EFFECT OF MENADIONE, METHYLENE BLUE AND ASCORBIC ACID ON THE REDUCTION OF METHEMOGLOBIN IN VIVO.
    Nature, 1964, May-09, Volume: 202

    Topics: Ascorbic Acid; Dihydrolipoamide Dehydrogenase; Drug Therapy; Erythrocytes; Humans; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; Methylene Blue; NAD; Sulfites; Vitamin K; Vitamin K 3

1964
Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency.
    Analytical biochemistry, 2004, Dec-01, Volume: 335, Issue:1

    Topics: Adenosine Triphosphate; Cytochromes c; Electron Transport; Electron Transport Complex I; Fibroblasts; Humans; Infant; Infant, Newborn; Metabolism, Inborn Errors; Mitochondria, Muscle; Mutation; NAD; NADH, NADPH Oxidoreductases; Oxidation-Reduction; Ubiquinone

2004
Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.
    European journal of pediatrics, 1983, Volume: 140, Issue:2

    Topics: Acidosis; Female; Humans; Infant; Infant, Newborn; Lactates; Male; Metabolism, Inborn Errors; NAD; Oxidation-Reduction; Pyruvates; Respiratory Insufficiency

1983
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
    Clinical science (London, England : 1979), 1990, Volume: 78, Issue:2

    Topics: Adult; Cells, Cultured; Child; Chromatography, High Pressure Liquid; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; Metabolism, Inborn Errors; NAD; Niacinamide; Nicotinic Acids; Phosphotransferases; Ribose-Phosphate Pyrophosphokinase

1990
Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.
    American journal of human genetics, 1985, Volume: 37, Issue:5

    Topics: Acidosis; Adenosine Triphosphate; Cells, Cultured; Digitonin; Female; Fibroblasts; Humans; Infant, Newborn; Lactates; Metabolism, Inborn Errors; Mitochondria; NAD; Oxidation-Reduction; Oxygen Consumption; Pyruvates; Skin; Substrate Specificity

1985
Red cell metabolism. A. Defects not causing hemolytic disease. B. Environmental modification.
    Biochimie, 1972, Volume: 54, Issue:5

    Topics: Catalase; Cholinesterases; Clinical Enzyme Tests; Erythrocytes; Flavin-Adenine Dinucleotide; Galactosemias; Glucosephosphate Dehydrogenase Deficiency; Glutathione Reductase; Humans; L-Lactate Dehydrogenase; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NAD; NADP; Nicotinic Acids; Pyridoxine; Riboflavin

1972
Metabolic regulation in enzyme-deficient red cells.
    Enzyme, 1974, Volume: 18, Issue:1

    Topics: Adenosine Triphosphate; Anemia, Hemolytic; Diphosphoglyceric Acids; Erythrocytes; Female; Fructosephosphates; Glucose; Glucose-6-Phosphate Isomerase; Glucosephosphates; Glycolysis; Hemolysis; Humans; Kinetics; Lactates; Male; Metabolism, Inborn Errors; NAD; NADP; Phosphoenolpyruvate; Phosphoglycerate Kinase; Phosphotransferases; Pyruvate Kinase; Splenectomy

1974
Kinetic differences between human red cell and leucocyte pyruvate kinase.
    Nature, 1965, Oct-09, Volume: 208, Issue:5006

    Topics: Erythrocytes; Humans; In Vitro Techniques; Kinetics; Leukocytes; Metabolism, Inborn Errors; NAD; Pyruvate Kinase

1965
Specific retention of an inhibitor of 3-beta-hydroxysteroid dehydrogenase in enzyme-containing tissues of the rat.
    Endocrinology, 1970, Volume: 86, Issue:3

    Topics: Adrenal Glands; Adrenal Hyperplasia, Congenital; Androstanes; Animals; Binding Sites; Carbon Isotopes; Chromatography, Thin Layer; Dimethyl Sulfoxide; Feces; Female; Hydroxysteroid Dehydrogenases; Isomerases; Liver; Metabolism, Inborn Errors; Microsomes; NAD; Ovary; Oxazoles; Rats

1970
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
    The Journal of clinical investigation, 1970, Volume: 49, Issue:3

    Topics: Alanine; Ataxia; Carbon Isotopes; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Lactates; Leukocytes; Male; Metabolism, Inborn Errors; NAD; Oxidation-Reduction; Pyruvates; Thiamine; Thiamine Pyrophosphate

1970
A simple spot screening test for fast detection of red cell NADH-diaphorase deficiency.
    Blood, 1970, Volume: 36, Issue:3

    Topics: Buffers; Dihydrolipoamide Dehydrogenase; Erythrocytes; Fluorescence; Humans; Metabolism, Inborn Errors; NAD; Nitrites; Saponins; Ultraviolet Rays

1970
[Familial glutathione reductase deficiency and disorder of glutathione synthesis in the erythrocyte].
    Helvetica paediatrica acta, 1970, Volume: 25, Issue:5

    Topics: Adenosine Triphosphate; Anemia, Hemolytic; Child; Chromosome Aberrations; Chromosome Disorders; Erythrocytes; Glutathione; Glutathione Reductase; Humans; Male; Metabolism, Inborn Errors; NAD; Nitrogen; Respiratory Tract Infections

1970
Rapid method for detection of erythrocyte NADH-methemoglobin reductase deficiency.
    American journal of clinical pathology, 1972, Volume: 57, Issue:2

    Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Humans; Indicators and Reagents; Infant; Infant, Newborn; Iron; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; Methods; NAD; Oxidoreductases

1972
[Congenital methemoglobinemia caused by the NADH-diaphorase deficiency].
    Medicinski pregled, 1971, Volume: 24, Issue:9

    Topics: Adolescent; Child; Dihydrolipoamide Dehydrogenase; Female; Homozygote; Humans; Male; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; NAD; Oxidoreductases

1971
Hereditary erythrocyte glutathione reductase deficiency.
    Revue europeenne d'etudes cliniques et biologiques. European journal of clinical and biological research, 1971, Volume: 16, Issue:10

    Topics: Adult; Anemia; Electrophoresis; Erythrocytes; Flavin-Adenine Dinucleotide; Glutathione Reductase; Humans; Hydrogen-Ion Concentration; In Vitro Techniques; Male; Metabolism, Inborn Errors; NAD; Pedigree; Riboflavin

1971
A case of hereditary methaemoglobinaemia.
    Australian paediatric journal, 1971, Volume: 7, Issue:4

    Topics: Cyanosis; Dihydrolipoamide Dehydrogenase; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Methemoglobinemia; NAD

1971
The identification of the enzymes that catalyse the oxidation of glyoxylate to oxalate in the 100000 g supernatant fraction of human hyperoxaluric and control liver and heart tissue.
    Clinical science, 1973, Volume: 44, Issue:3

    Topics: Adolescent; Carbon Isotopes; Child, Preschool; Chromatography, DEAE-Cellulose; Chromatography, Gel; Electrophoresis, Polyacrylamide Gel; Female; Glyoxylates; Humans; In Vitro Techniques; L-Lactate Dehydrogenase; Liver; Male; Metabolism, Inborn Errors; Myocardium; NAD; Oxalates; Oxidation-Reduction; Spectrophotometry; Xanthine Oxidase

1973
Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
    Clinical chemistry, 1973, Volume: 19, Issue:5

    Topics: Autoanalysis; Drug Stability; False Positive Reactions; Fluorometry; Galactosemias; Humans; Mass Screening; Metabolism, Inborn Errors; Methods; NAD; Phosphotransferases

1973
[Enterogenons methemoglobinemia caused by heterozygotic deficiency of erythrocytic NADH-methemoglobin reductase].
    Blut, 1974, Volume: 29, Issue:1

    Topics: Ascorbic Acid; Cyanosis; Dihydrolipoamide Dehydrogenase; Erythrocytes; Female; Heterozygote; Humans; Intestines; Kinetics; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; Middle Aged; NAD; Neomycin

1974
On the occurence of the alpha isomer of diphosphopyridine nucleotide and on the dehydrogenases activated by it, in leucocytes and neoplastic tissues. A metabolic error.
    Acta medica Scandinavica, 1968, Volume: 183, Issue:5

    Topics: Animals; Chromatography, Paper; Cyanides; Humans; L-Lactate Dehydrogenase; Leukocytes; Malate Dehydrogenase; Metabolism, Inborn Errors; NAD; NADP; Neoplasms; Neoplasms, Experimental; Oxidoreductases; Rats

1968
Inherited methemoglobinemia (enzyme deficiencies).
    Humangenetik, 1970, Volume: 9, Issue:3

    Topics: Erythrocytes; Humans; Metabolism, Inborn Errors; Methemoglobin; Methemoglobinemia; NAD; NADP

1970
The inhibition by methylmalonic acid of malate transport by the dicarboxylate carrier in rat liver mitochondria. A possible explantation for hypoglycemia in methylmalonic aciduria.
    The Journal of clinical investigation, 1971, Volume: 50, Issue:11

    Topics: Animals; Antimycin A; Biological Transport; Citrates; Depression, Chemical; Gluconeogenesis; Hypoglycemia; Isomerases; Ketoglutaric Acids; Malates; Malonates; Metabolism, Inborn Errors; Mitochondria, Liver; Mitochondrial Swelling; Models, Biological; NAD; NADP; Oxygen Consumption; Polarography; Rats; Uncoupling Agents

1971
Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency.
    European journal of clinical investigation, 1973, Volume: 3, Issue:1

    Topics: Adenosine Diphosphate; Adenosine Triphosphate; Anemia, Hemolytic, Congenital; Erythrocytes; Female; Glycolysis; Hexokinase; Humans; Metabolism, Inborn Errors; Middle Aged; NAD; NADP; Phosphoglycerate Kinase; Pyruvate Kinase

1973