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thymine and Purine Pyrimidine Metabolism, Inborn Errors

thymine has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 23 studies

Research Excerpts

ExcerptRelevanceReference
"In addition to this study we analyzed a DPD deficiency case and a DHPuria case."1.30Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine. ( Dobashi, K; Hayashi, K; Kidouchi, K; Kondou, M; Kouwaki, M; Sumi, S; Togari, H; Wada, Y, 1998)

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-19908 (34.78)18.7374
1990's10 (43.48)18.2507
2000's5 (21.74)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Au, KM1
Lai, CK1
Yuen, YP1
Shek, CC1
Lam, CW1
Chan, AY1
Van Kuilenburg, AB7
Stroomer, AE1
Van Lenthe, H2
Abeling, NG4
Van Gennip, AH7
Al-Sanna'a, NA1
Atrak, TM1
Abdul-Jabbar, MA1
Assmann, BE1
Distelmaier, F1
Rosenbaum, T1
Schaper, J1
Duran, M4
Mayatepek, E1
Brussel, W1
Janssens, PM1
Berger, R3
Stoker-de Vries, SA2
Wadman, SK3
Beemer, FA3
de Bree, PK3
Weits-Binnerts, JJ2
Penders, TJ2
van der Woude, JK2
Ketting, D1
van Sprang, FJ1
Bakker, HD1
Henderson, MJ1
Jones, S2
Walker, P1
Duley, J1
Simmonds, HA1
Ohba, S1
Kidouchi, K2
Sumi, S2
Imaeda, M1
Takeda, N1
Yoshizumi, H1
Tatematsu, A1
Kodama, K1
Yamanaka, K1
Kobayashi, M1
Meinsma, R1
Fernandez-Salguero, P1
Gonzalez, FJ2
Fernandez-Salguero, PM1
Sapone, A1
Wei, X1
Holt, JR1
Idle, JR1
Kouwaki, M2
Wada, Y2
De Abreu, RA2
Vreken, P1
Kondou, M1
Hayashi, K1
Dobashi, K1
Togari, H1
Busch, S1
Scholten, EG1
Stroomer, LE1
Adolph, KJ1
Fung, E1
McLeod, DR1
Morgan, K1
Snyder, FF1
Tuchman, M1
Stoeckeler, JS1
Kiang, DT1
O'Dea, RF1
Ramnaraine, ML1
Mirkin, BL1
Bakkeren, JA1
Braakhekke, J1
Gabreels, FJ1
Maas, JM1
Sengers, RC1
Wilcken, B1
Hammond, J1
Wise, G1
James, C1
Levine, RL1
Hoogenraad, NJ1
Kretchmer, N1
Cotton, RG1
Camakaris, J1
Danks, DM1

Reviews

2 reviews available for thymine and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
[Dihydropyrimidine dehydrogenase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Diagnosis, Differential; Dihydrouracil Dehydrogenase (NADP); Humans; Mutation; Oxidoreductases; Prog

1998
A review: biological and clinical aspects of pyrimidine metabolism.
    Pediatric research, 1974, Volume: 8, Issue:7

    Topics: Ammonia; Animals; Cats; Cell Transformation, Neoplastic; Cytidine; Glucose; Humans; Isoproterenol; L

1974

Other Studies

21 other studies available for thymine and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.
    Hong Kong medical journal = Xianggang yi xue za zhi, 2003, Volume: 9, Issue:2

    Topics: Dihydrouracil Dehydrogenase (NADP); Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; M

2003
New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?
    The Biochemical journal, 2004, Apr-01, Volume: 379, Issue:Pt 1

    Topics: Aminoisobutyric Acids; beta-Alanine; Brain Diseases, Metabolic, Inborn; Dihydropyrimidine Dehydrogen

2004
Dihydropyrimidine dehydrogenase deficiency presenting at birth.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Age of Onset; Antimetabolites; Binding Sites; Digestive System Abnormalities; Dihydropyrimidine Dehy

2005
Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
    Epilepsia, 2006, Volume: 47, Issue:1

    Topics: Amidohydrolases; Atrophy; Central Nervous System Diseases; Diagnosis, Differential; Fever; Hematoma,

2006
A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase.
    Nucleosides, nucleotides & nucleic acids, 2006, Volume: 25, Issue:9-11

    Topics: Developmental Disabilities; Dihydrouracil Dehydrogenase (NADP); Female; Homozygote; Humans; Infant;

2006
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Aug-31, Volume: 141, Issue:2-3

    Topics: Adolescent; Child; Child, Preschool; Chromatography, Thin Layer; Dihydrouracil Dehydrogenase (NADP);

1984
New defects of pyrimidine metabolism.
    Advances in experimental medicine and biology, 1984, Volume: 165 Pt A

    Topics: Child, Preschool; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Humans; Purine-Pyrimidi

1984
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;

1995
Heterogeneity of symptomatology in two male siblings with thymine uraciluria.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:1

    Topics: Child, Preschool; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Language Developmen

1995
Dihydropyrimidinuria: the first case in Japan.
    Advances in experimental medicine and biology, 1994, Volume: 370

    Topics: Chromatography, High Pressure Liquid; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant;

1994
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
    DNA and cell biology, 1995, Volume: 14, Issue:1

    Topics: Base Sequence; Cells, Cultured; Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Exons; Female;

1995
Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.
    Pharmacogenetics, 1997, Volume: 7, Issue:2

    Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Genotype; Humans; Male; Molecular Sequence Dat

1997
Clinical and biochemical aspects of dihydropyrimidinase deficiency.
    Advances in experimental medicine and biology, 1998, Volume: 431

    Topics: Amidohydrolases; Biomarkers; Humans; Purine-Pyrimidine Metabolism, Inborn Errors; Reference Values;

1998
Possible prediction of adverse reactions to fluorouracil by the measurement of urinary dihydrothymine and thymine.
    International journal of molecular medicine, 1998, Volume: 2, Issue:4

    Topics: Adolescent; Adult; Antimetabolites, Antineoplastic; Child; Child, Preschool; Dihydropyrimidine Dehyd

1998
Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Amidohydrolases; Amino Acids; beta-Alanine; Chromatography, Ion Exchange; Humans; Purine-Pyrimidine

1991
Dihydropyrimidine dehydrogenase deficiency in a Hutterite newborn.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Alberta; Consanguinity; Dihydrouracil Dehydrogenase (NADP); Ethnicity; Humans; Infant, Newborn; Male

1991
Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity.
    The New England journal of medicine, 1985, Jul-25, Volume: 313, Issue:4

    Topics: Adult; Breast Neoplasms; Carcinoma, Intraductal, Noninfiltrating; Female; Fluorouracil; Humans; Male

1985
Dihydrothymine dehydrogenase deficiency in a family, leading to elevated levels of uracil and thymine.
    Advances in experimental medicine and biology, 1986, Volume: 195 Pt A

    Topics: Child; Chromatography, Gas; Dihydrouracil Dehydrogenase (NAD+); Female; Fibroblasts; Humans; Male; O

1986
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2

    Topics: Child, Preschool; Dihydrouracil Dehydrogenase (NADP); Humans; Male; Oxidoreductases; Purine-Pyrimidi

1985
Dihydropyrimidine dehydrogenase deficiency--a further case.
    Journal of inherited metabolic disease, 1985, Volume: 8 Suppl 2

    Topics: Dihydrouracil Dehydrogenase (NADP); Humans; Infant; Male; Oxidoreductases; Purine-Pyrimidine Metabol

1985
A screening test for urinary purines and pyrimidines and related compounds using auxotrophic mutants of Escherichia coli K12.
    Biochemical medicine, 1970, Volume: 3, Issue:4

    Topics: Adenine; Alanine; Aspartic Acid; Biological Assay; Carbamates; Child; Chromatography, Paper; Cytosin

1970