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uracil and Deficiency Disease, Ornithine Carbamoyltransferase

uracil has been researched along with Deficiency Disease, Ornithine Carbamoyltransferase in 14 studies

2,4-dihydroxypyrimidine: a urinary biomarker for bipolar disorder

Research Excerpts

ExcerptRelevanceReference
"Uracil and orotic acid concentrations were analyzed in three female patients with OTCD at both the hyperammonemia-attack and interval stages."3.73Urinary uracil in female patients with ornithine transcarbamylase deficiency. ( Ban, K; Imaeda, M; Ito, T; Ohkubo, Y; Sumi, S; Togari, H; Ueta, A, 2005)
"A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil."1.32A suspected case of ornithine transcarbamylase deficiency in a cat. ( Matsumoto, I; Sawamura, M; Suzuki, T; Washizu, M; Washizu, T; Zhang, C, 2004)
"A patient with partial ornithine transcarbamylase deficiency and his mother usually excreted a high level of uracil during the period of normal orotic acid excretion and normal serum ammonia level."1.28Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching. ( Katoh, T; Kibe, T; Kidouchi, K; Kobayashi, M; Ohba, S; Wada, Y, 1991)

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19902 (14.29)18.7374
1990's3 (21.43)18.2507
2000's7 (50.00)29.6817
2010's1 (7.14)24.3611
2020's1 (7.14)2.80

Authors

AuthorsStudies
Alsharhan, H1
Alharbi, H1
Priestley, J1
Ganetzky, R1
He, M1
Auray-Blais, C1
Maranda, B1
Lavoie, P1
Washizu, T1
Washizu, M1
Zhang, C1
Matsumoto, I1
Sawamura, M1
Suzuki, T1
Sumi, S3
Imaeda, M1
Ito, T2
Ueta, A2
Ban, K2
Ohkubo, Y1
Togari, H3
Schmidt, C1
Hofmann, U1
Kohlmüller, D1
Mürdter, T1
Zanger, UM1
Schwab, M1
Hoffmann, GF1
Jakobs, C1
Sweetman, L1
Nyhan, WL2
Gruenke, L1
Craig, JC1
Wadman, SK2
Van Acker, KJ1
Eyskens, FJ1
Verkerk, RM1
Scharpé, SS1
Matsuura, T1
Kidouchi, K4
Kubota, M1
Kitou, O1
Mikami, H1
Ohura, T1
Matsuda, I1
Wada, Y4
Wiltshire, EJ1
Poplawski, NK1
Harbord, MG1
Harrison, RJ1
Fletcher, JM1
Hamajima, N1
Fujimoto, S1
Barshop, BA1
Climent, C1
Rubio, V1
van Gennip, AH1
Grift, J1
de Bree, PK1
Zegers, BJ1
Stoop, JW1
Ohba, S2
Nakamura, C1
Katoh, T2
Kobayashi, M2
Kibe, T1

Other Studies

14 other studies available for uracil and Deficiency Disease, Ornithine Carbamoyltransferase

ArticleYear
Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.
    Clinical chemistry, 2020, 07-01, Volume: 66, Issue:7

    Topics: Biomarkers; Humans; Infant; Male; Ornithine Carbamoyltransferase Deficiency Disease; Uracil

2020
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2014, Sep-25, Volume: 436

    Topics: Biomarkers; Creatine; Creatinine; Filtration; Glycine; Humans; Hyperammonemia; Infant, Newborn; Orni

2014
A suspected case of ornithine transcarbamylase deficiency in a cat.
    The Journal of veterinary medical science, 2004, Volume: 66, Issue:6

    Topics: Alanine Transaminase; Animals; Aspartate Aminotransferases; Bile Acids and Salts; Cat Diseases; Cats

2004
Urinary uracil in female patients with ornithine transcarbamylase deficiency.
    Pediatrics international : official journal of the Japan Pediatric Society, 2005, Volume: 47, Issue:3

    Topics: Child, Preschool; Female; Heterozygote; Humans; Hyperammonemia; Infant; Ornithine Carbamoyltransfera

2005
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Adolescent; beta-Alanine; Child; Child, Preschool; Chromatography, High Pressure Liquid; Dihydropyri

2005
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.
    Clinica chimica acta; international journal of clinical chemistry, 1984, Nov-15, Volume: 143, Issue:2

    Topics: Amniotic Fluid; Argininosuccinate Synthase; Chromatography, Liquid; Female; Gas Chromatography-Mass

1984
Urinary excretion of purine and pyrimidine metabolites in the neonate.
    Pediatric research, 1993, Volume: 34, Issue:6

    Topics: Chromatography; Evaluation Studies as Topic; Female; Heterozygote; Humans; Infant, Newborn; Male; Ma

1993
Detection of ornithine transcarbamylase deficiency heterozygotes by measuring of urinary uracil.
    International journal of molecular medicine, 2000, Volume: 6, Issue:2

    Topics: Female; Genetic Carrier Screening; Humans; Models, Biological; Ornithine Carbamoyltransferase Defici

2000
Ornithine carbamoyltransferase deficiency presenting with chorea in a female.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:8

    Topics: Alanine; Chorea; Female; Glutamine; Humans; Infant; Ornithine Carbamoyltransferase Deficiency Diseas

2000
Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individuals.
    Clinica chimica acta; international journal of clinical chemistry, 2001, Volume: 308, Issue:1-2

    Topics: Adult; Child; Child, Preschool; Circadian Rhythm; Female; Humans; Infant; Male; Ornithine Carbamoylt

2001
Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4

    Topics: Allopurinol; Child; False Negative Reactions; Female; Genetic Carrier Screening; Humans; Mutation; O

2001
Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 1979, May-02, Volume: 93, Issue:3

    Topics: Allopurinol; Child; Child, Preschool; Chromatography, High Pressure Liquid; Deoxycytidine; Humans; I

1979
Reference values of orotic acid, uracil and pseudouridine in urine.
    Advances in experimental medicine and biology, 1991, Volume: 309B

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, Hi

1991
Automated determination of orotic acid, uracil and pseudouridine in urine by high-performance liquid chromatography with column switching.
    Journal of chromatography, 1991, Aug-23, Volume: 568, Issue:2

    Topics: Adolescent; Adult; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Humans; In

1991