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nad and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

nad has been researched along with Choreoathetosis Self-Mutilation Hyperuricemia Syndrome in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19902 (25.00)18.7374
1990's5 (62.50)18.2507
2000's1 (12.50)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bertelli, M; Cerboni, B; Di Marcello, F; Jacomelli, G; Jinnah, HA; Micheli, V; Notarantonio, L; Pompucci, G; Sestini, S1
Bari, M; Micheli, V; Pompucci, G; Simmonds, HA1
Harkness, RA; McCreanor, GM1
Cardona, F; Gathof, B; Hayek, G; Jacomelli, G; Manzoni, F; Micheli, V; Pompucci, G; Rocchigiani, M; Sestini, S; Zammarchi, E1
Gathof, BS; Jacomelli, G; Manzoni, F; Micheli, V; Peruzzi, L; Pompucci, G; Rocchigiani, M; Sestini, S; Zammarchi, E1
Blinov, MN; Filanovskaia, LI; Filippova, VN1
Micheli, V; Ricci, C; Simmonds, HA1
Beutler, E1

Reviews

1 review(s) available for nad and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

ArticleYear
[Nucleotide synthesis in the erythrocytes in certain forms of anemia (a review of the literature)].
    Problemy gematologii i perelivaniia krovi, 1977, Volume: 22, Issue:3

    Topics: Adenine Nucleotides; Anemia; Anemia, Hemolytic; Cell Nucleus; Energy Metabolism; Erythrocyte Membrane; Erythrocytes; Hemoglobinuria, Paroxysmal; Humans; Inosine Nucleotides; Lesch-Nyhan Syndrome; Male; NAD; NADP; Nucleic Acid Precursors; Nucleotides; Phosphoribosyl Pyrophosphate

1977

Other Studies

7 other study(ies) available for nad and Choreoathetosis Self-Mutilation Hyperuricemia Syndrome

ArticleYear
NAD metabolism in HPRT-deficient mice.
    Metabolic brain disease, 2009, Volume: 24, Issue:2

    Topics: Analysis of Variance; Animals; Blood Proteins; Brain; Disease Models, Animal; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Liver; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; NAD; Purines; Pyridines

2009
HPLC determination of oxidized and reduced pyridine coenzymes in human erythrocytes.
    Clinica chimica acta; international journal of clinical chemistry, 1993, Oct-29, Volume: 220, Issue:1

    Topics: Chromatography, High Pressure Liquid; Erythrocytes; Glycogen Storage Disease Type I; Humans; Lesch-Nyhan Syndrome; NAD; NADP; Oxidation-Reduction; Purine-Nucleoside Phosphorylase; Ribose-Phosphate Pyrophosphokinase

1993
Lesch-Nyhan syndrome and its pathogenesis: normal nicotinamide-adenine dinucleotide but reduced ATP concentrations that correlate with reduced poly(ADP-ribose) synthetase activity in HPRT-deficient lymphoblasts.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:6

    Topics: Adenosine Triphosphate; DNA Damage; DNA Repair; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; NAD; Poly(ADP-ribose) Polymerases

1995
Enzyme activities leading to NAD synthesis in the erythrocytes of HPRT deficient subjects.
    Advances in experimental medicine and biology, 1998, Volume: 431

    Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Erythrocytes; Humans; Hypoxanthine Phosphoribosyltransferase; Lesch-Nyhan Syndrome; Male; NAD; Pentosyltransferases

1998
Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes.
    Life sciences, 1999, Volume: 64, Issue:26

    Topics: Adolescent; Adult; Amide Synthases; Child; Child, Preschool; Erythrocytes; Female; Humans; Hypoxanthine Phosphoribosyltransferase; Infant; Kinetics; Lesch-Nyhan Syndrome; Male; Middle Aged; NAD; Nicotinic Acids; Pentosyltransferases; Purine Nucleotides; Purines; Pyridines; Pyrimidine Nucleotides; Tryptophan

1999
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
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