Page last updated: 2024-08-17

nadp and Metabolism, Inborn Errors

nadp has been researched along with Metabolism, Inborn Errors in 26 studies

Research

Studies (26)

TimeframeStudies, this research(%)All Research%
pre-199021 (80.77)18.7374
1990's2 (7.69)18.2507
2000's3 (11.54)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Jakobs, C; Struys, EA; Wamelink, MM1
Berry, GT1
Efferth, T; Fischer, S; Kiani, F; Schwarzl, S1
Dolphin, CT; Phillips, IR; Riley, JH; Shephard, EA; Smith, RL1
Ben Dridi, MF; Kaabachi, N; Khiari, D; Mebazaa, A; Tebib, N1
Kelly, S; Schedlbauer, L1
Quie, PG1
Cramer, R; Kakinuma, K; Patriarca, P; Tedesco, F1
Beutler, E1
Bowman, JE; Carson, PE; Frischer, H; Rieckmann, KH1
Buc, HA; Cartier, P; Garreau, H; Leroux, JP; Marchand, JC1
Kaneko, JJ1
Luzzatto, L1
Browder, JA; Fialkow, PJ; Motulsky, AG; Sparkes, RS1
Hsia, DY1
Caruso, CJ; Farhangi, M; Sass, MD1
Goldman, AS1
Kerppola, W1
Grimes, AJ1
Carson, PE1
Baur, EW; Moutlsky, AG; Yoshida, A1
Waller, HD1
Fritz, IB; Halperin, ML; Schiller, CM1
Cotton, DW; Van den Hurk, JJ; Van der Staak, WB1
Prankerd, TA1
Arese, P; Bosia, A; Gallo, E; Mazza, U; Pescarmona, GP1

Reviews

7 review(s) available for nadp and Metabolism, Inborn Errors

ArticleYear
The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:6

    Topics: Glycolysis; Humans; Hypoxia; Metabolism, Inborn Errors; Models, Biological; Mutation; NADP; Neoplasms; Oxygen; Pentose Phosphate Pathway; Phenotype; Ribose; Transaldolase

2008
[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 phagocyte function: biochemical aspects.
    Progress in clinical and biological research, 1977, Volume: 13

    Topics: Blood Bactericidal Activity; Carbohydrate Metabolism, Inborn Errors; Cell Movement; Chediak-Higashi Syndrome; Chemotaxis, Leukocyte; Cyclic AMP; Cyclic GMP; Granulocytes; Granulomatous Disease, Chronic; Humans; Hydrogen Peroxide; Hydrogen-Ion Concentration; Hydrolases; Leukocytes; Luminescent Measurements; Mannose; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; NADP; NADPH Oxidases; Nucleotides, Cyclic; Oxygen Consumption; Peroxidase; Phagocyte Bactericidal Dysfunction; Phagocytosis; Protein-Energy Malnutrition

1977
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
Genetic heterogeneity and pathophysiology of G6PD deficiency.
    British journal of haematology, 1974, Volume: 28, Issue:2

    Topics: Binding Sites; Erythrocytes; Genes; Glucosephosphate Dehydrogenase Deficiency; Half-Life; Humans; Kinetics; Metabolism, Inborn Errors; Models, Biological; Molecular Conformation; Mutation; NADP; Protein Binding; Thalassemia

1974
The screening of hereditary metabolic defects among newborn infants.
    Canadian Medical Association journal, 1966, Aug-06, Volume: 95, Issue:6

    Topics: Bacteriological Techniques; Biological Assay; Blood Chemical Analysis; Chromatography, Paper; Female; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; NADP; Urine

1966
Red cells and their enzymes.
    The Scientific basis of medicine annual reviews, 1972

    Topics: Adenosine Triphosphatases; Adenosine Triphosphate; Carbohydrate Epimerases; Cell Membrane; Cell Membrane Permeability; Cholesterol; Cytoplasm; Erythrocytes; Hemolysis; Hexokinase; Humans; Metabolism, Inborn Errors; NADP; Phosphoglycerate Kinase; Potassium; Pyruvate Kinase; Sodium

1972

Other Studies

19 other study(ies) available for nadp and Metabolism, Inborn Errors

ArticleYear
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
Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.
    PloS one, 2007, Jul-18, Volume: 2, Issue:7

    Topics: Africa; Europe; Genetic Variation; Germany; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Humans; Metabolism, Inborn Errors; Middle East; Models, Genetic; Mutation; NADP

2007
Structural organization of the human flavin-containing monooxygenase 3 gene (FMO3), the favored candidate for fish-odor syndrome, determined directly from genomic DNA.
    Genomics, 1997, Dec-01, Volume: 46, Issue:2

    Topics: Exons; Flavin-Adenine Dinucleotide; Humans; Introns; Metabolism, Inborn Errors; Methylamines; Molecular Sequence Data; NADP; Odorants; Oxygenases; Polymerase Chain Reaction; Sequence Analysis, DNA

1997
Glutathione peroxidase in dried blood spots.
    Experientia, 1978, Dec-15, Volume: 34, Issue:12

    Topics: Adult; Anemia; Animals; Child; Fluorescence; Glutathione Peroxidase; Humans; Infant; Infant, Newborn; Mass Screening; Metabolism, Inborn Errors; Methods; Middle Aged; NADP; Peroxidases; Phenylketonurias; Rats; Selenium

1978
Studies on the mechanism of metabolic stimulation in polymorphonuclear leucocytes during phagocytosis. II. Presence of the NADPH2 oxidizing activity in a myeloperoxidase-deficient subject.
    Biochimica et biophysica acta, 1975, Apr-07, Volume: 385, Issue:2

    Topics: Adult; Cytoplasmic Granules; Glucose; Granulocytes; Hexosephosphates; Humans; Leukocytes; Male; Metabolism, Inborn Errors; NADP; Peroxidases; Phagocytosis

1975
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
Visual test for erythrocytic glucose-6-phosphate dehydrogenase, 6-phosphogluconic dehydrogenase, and glutathione reductase deficiencies.
    The Journal of laboratory and clinical medicine, 1973, Volume: 81, Issue:4

    Topics: Colorimetry; Cyanides; Erythrocytes; Female; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Glutathione Reductase; Hemoglobins; Hemolysis; Humans; Indophenol; Male; Metabolism, Inborn Errors; Methemoglobin; Methods; NADP; Oxidation-Reduction; Phenols; Phosphogluconate Dehydrogenase

1973
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
Mental retardation in methemoglobinemia due to diaphorase deficiency.
    The New England journal of medicine, 1965, Oct-14, Volume: 273, Issue:16

    Topics: Adolescent; Adult; Child; Child, Preschool; Dihydrolipoamide Dehydrogenase; Erythrocytes; Female; Humans; Intellectual Disability; Male; Metabolism, Inborn Errors; Methemoglobinemia; Middle Aged; NADP

1965
TPNH-methemoglobin reductase deficiency: a new red-cell enzyme defect.
    The Journal of laboratory and clinical medicine, 1967, Volume: 70, Issue:5

    Topics: Erythrocytes; Humans; Male; Metabolism, Inborn Errors; Methemoglobin; Methylene Blue; Middle Aged; NADP; Oxidoreductases; Pedigree

1967
Experimental model of congenital adrenal cortical hyperplasia produced in utero with an inhibitor of 11-beta-steroid hydroxylase.
    The Journal of clinical endocrinology and metabolism, 1967, Volume: 27, Issue:10

    Topics: Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Animals; Corticosterone; Female; Fetal Diseases; Fetus; Glucosephosphate Dehydrogenase; Histocytochemistry; Maternal-Fetal Exchange; Metabolism, Inborn Errors; Metyrapone; Mixed Function Oxygenases; Models, Biological; NADP; Pregnancy; Pregnancy, Animal; Rats

1967
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
The laboratory diagnosis of enzyme defects in the red cell.
    British journal of haematology, 1969, Volume: 17, Issue:2

    Topics: Clinical Enzyme Tests; Erythrocytes, Abnormal; Glucosephosphate Dehydrogenase Deficiency; Glutathione; Heinz Bodies; Hemoglobins, Abnormal; Hemolysis; Humans; Metabolism, Inborn Errors; Methemoglobin; NADP; Osmotic Fragility; Pyruvate Kinase

1969
Hemolysis due to inherited erythrocyte enzyme deficiencies.
    Annals of the New York Academy of Sciences, 1968, Jul-31, Volume: 151, Issue:2

    Topics: Age Factors; Asia, Southeastern; Dapsone; Erythrocytes; Genetics, Population; Glucose; Glucosephosphate Dehydrogenase Deficiency; Glutathione Reductase; Hemolysis; Humans; Male; Metabolism, Inborn Errors; NADP; Nicotinic Acids; Pharmacogenetics; Racial Groups; United States

1968
A Philippino glucose-6-phosphate dehydrogenase variant (G6PD Union) with enzyme deficiency and altered substrate specificity.
    Blood, 1970, Volume: 35, Issue:4

    Topics: Asian People; Coenzymes; Electrophoresis; Erythrocytes; Galactose; Gels; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Hexosephosphates; Humans; Hydrogen-Ion Concentration; Immune Sera; Male; Metabolism, Inborn Errors; NADP; Neutralization Tests; Pedigree; Starch; Terminology as Topic; Thalassemia

1970
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
Lichen planus; an inborn error of metabolism.
    The British journal of dermatology, 1972, Volume: 87, Issue:4

    Topics: Animals; Biopsy; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Guinea Pigs; Humans; Kinetics; Lichen Planus; Metabolism, Inborn Errors; NADP; Skin; Spectrometry, Fluorescence

1972
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