Page last updated: 2024-08-17

nad and Purine Pyrimidine Metabolism, Inborn Errors

nad has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19902 (33.33)18.7374
1990's4 (66.67)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Abeling, NG; Bakker, HD; van Gennip, AH; van Kuilenburg, AB; van Lenthe, H1
Bory, C; Boulieu, R; Chantin, C1
Hayek, G; Jacomelli, G; Micheli, V; Pescaglini, M; Pompucci, G; Rocchigiani, M; Sestini, S1
Jacomelli, G; Magagnoli, C; Pescaglini, M; Rocchigiani, M; Sestini, S; Simmonds, HA1
Micheli, V; Simmonds, HA1
Lingam, S; Simmonds, HA; Webster, DR; Wilson, J1

Other Studies

6 other study(ies) available for nad and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2

    Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Fibroblasts; Heterozygote; Humans; Leukocytes; Male; NAD; NADP; Oxidoreductases; Purine-Pyrimidine Metabolism, Inborn Errors; Thymine; Uracil

1995
Abnormal purine and pyrimidine metabolism in inherited superactivity of PRPP synthetase.
    Advances in experimental medicine and biology, 1994, Volume: 370

    Topics: Adenine Nucleotides; Allopurinol; Child; Erythrocytes; Female; Guanine Nucleotides; Humans; Hypoxanthine; Hypoxanthines; Inosine; Male; NAD; Nuclear Family; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values; Ribonucleotides; Ribose-Phosphate Pyrophosphokinase; Uric Acid; Uridine; Uridine Diphosphate Glucose; Xanthine; Xanthines

1994
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.
    Advances in experimental medicine and biology, 1994, Volume: 370

    Topics: Adenine; Carbon Radioisotopes; Child; Erythrocytes; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Hypoxanthines; Infant; Intellectual Disability; Male; NAD; NADP; Purine-Pyrimidine Metabolism, Inborn Errors; Pyrimidines; Radioisotope Dilution Technique; Reference Values; Ribonucleotides

1994
NAD synthesis in human erythrocytes: study of adenylyl transferase activities in patients bearing purine enzyme disorders.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Adenine Phosphoribosyltransferase; Adenosine Deaminase; Erythrocytes; Humans; Hypoxanthine Phosphoribosyltransferase; In Vitro Techniques; Kinetics; NAD; Nicotinamide Mononucleotide; Nucleotidyltransferases; Purine-Nucleoside Phosphorylase; Purine-Pyrimidine Metabolism, Inborn Errors

1991
NAD synthesis by erythrocytes in phosphoribosylpyrophosphate synthetase (PRPPs) superactivity.
    Advances in experimental medicine and biology, 1989, Volume: 253A

    Topics: Child; Erythrocytes; Female; Glutamine; Humans; Male; NAD; Niacin; Niacinamide; Phosphotransferases; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase

1989
An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.
    Neuropediatrics, 1985, Volume: 16, Issue:2

    Topics: Deafness; Erythrocytes; Female; Guanosine Triphosphate; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; NAD; Purine-Pyrimidine Metabolism, Inborn Errors; Ribose-Phosphate Pyrophosphokinase; Syndrome; Uric Acid; X Chromosome

1985