BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 33489760)

  • 1. Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (
    Al Absi HS; Sacharow S; Al Zein N; Al Shamsi A; Al Teneiji A
    Mol Genet Metab Rep; 2021 Mar; 26():100703. PubMed ID: 33489760
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
    Wortmann SB; Chen MA; Colombo R; Pontoglio A; Alhaddad B; Botto LD; Yuzyuk T; Coughlin CR; Descartes M; Grűnewald S; Maranda B; Mills PB; Pitt J; Potente C; Rodenburg R; Kluijtmans LA; Sampath S; Pai EF; Wevers RA; Tiller GE;
    J Inherit Metab Dis; 2017 May; 40(3):423-431. PubMed ID: 28205048
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Case Report: A Novel Missense Mutation c.517G>C in the
    Ma R; Ye J; Han J; Gao L; Wang C; Wang Y
    Front Neurol; 2022; 13():819116. PubMed ID: 35356460
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hereditary orotic aciduria identified by newborn screening.
    Staretz-Chacham O; Damseh NS; Daas S; Abu Salah N; Anikster Y; Barel O; Dumin E; Fattal-Valevski A; Falik-Zaccai TC; Hershkovitz E; Josefsberg S; Landau Y; Lerman-Sagie T; Mandel H; Rock R; Rostami N; Saraf-Levy T; Shaul Lotan N; Spiegel R; Tal G; Ulanovsky I; Wilnai Y; Korman SH; Almashanu S
    Front Genet; 2023; 14():1135267. PubMed ID: 36999056
    [No Abstract]   [Full Text] [Related]  

  • 5. Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.
    Grohmann K; Lauffer H; Lauenstein P; Hoffmann GF; Seidlitz G
    Neuropediatrics; 2015 Apr; 46(2):123-5. PubMed ID: 25757096
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.
    Levitte S; Salesky R; King B; Coe Smith S; Depper M; Cole M; Hermann GJ
    FEBS J; 2010 Mar; 277(6):1420-39. PubMed ID: 20148972
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary Orotic Aciduria and the Excretion of Orotidine.
    Nyhan WL; Gangoiti JA
    Neuropediatrics; 2016 Dec; 47(6):408-409. PubMed ID: 27574833
    [No Abstract]   [Full Text] [Related]  

  • 8. HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.
    BECROFT DM; PHILLIPS LI
    Br Med J; 1965 Feb; 1(5434):547-52. PubMed ID: 14243056
    [No Abstract]   [Full Text] [Related]  

  • 9. Megaloblastic anemia and orotic aciduria. A hereditary disorder of pyrimidine metabolism responsive to uridine.
    Haggard ME; Lockhart LH
    Am J Dis Child; 1967 Jun; 113(6):733-40. PubMed ID: 6026580
    [No Abstract]   [Full Text] [Related]  

  • 10. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families.
    Suchi M; Mizuno H; Kawai Y; Tsuboi T; Sumi S; Okajima K; Hodgson ME; Ogawa H; Wada Y
    Am J Hum Genet; 1997 Mar; 60(3):525-39. PubMed ID: 9042911
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol.
    Simmonds HA; Webster DR; Becroft DM; Potter CF
    Eur J Clin Invest; 1980 Aug; 10(4):333-9. PubMed ID: 6775961
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.
    Yazaki M; Okajima K; Suchi M; Morishita H; Wada Y
    Tohoku J Exp Med; 1987 Nov; 153(3):189-95. PubMed ID: 2829387
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.
    Winkler JK; Suttle DP
    Am J Hum Genet; 1988 Jul; 43(1):86-94. PubMed ID: 2837086
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Localization of uridine monophosphate synthase (UMPS) gene to river buffalo chromosomes by FISH.
    Iannuzzi L; Di Meo GP; Ryan AM; Gallagher DS; Ferrara L; Womack JE
    Chromosome Res; 1994 May; 2(3):255-6. PubMed ID: 8069469
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary orotic aciduria with normal growth and development.
    Tubergen DG; Krooth RS; Heyn RM
    Am J Dis Child; 1969 Dec; 118(6):864-70. PubMed ID: 5353014
    [No Abstract]   [Full Text] [Related]  

  • 16. In brief: Uridine triacetate (Xuriden) for hereditary orotic aciduria.
    Med Lett Drugs Ther; 2016 Mar; 58(1491):e49. PubMed ID: 27027693
    [No Abstract]   [Full Text] [Related]  

  • 17. Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.
    Becroft DM; Phillips LI; Simmonds A
    J Pediatr; 1969 Nov; 75(5):885-91. PubMed ID: 5347440
    [No Abstract]   [Full Text] [Related]  

  • 18. Orotic Acid, More Than Just an Intermediate of Pyrimidine de novo Synthesis.
    Löffler M; Carrey EA; Zameitat E
    J Genet Genomics; 2015 May; 42(5):207-19. PubMed ID: 26059769
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary orotic aciduria: results of a screening survey.
    Rogers LE; Nicolaisen AK; Holt JG
    J Lab Clin Med; 1975 Feb; 85(2):287-91. PubMed ID: 1113015
    [TBL] [Abstract][Full Text] [Related]  

  • 20. HEREDITARY OROTIC ACIDURIA--PYRIMIDINE AUXOTROPHISM IN MAN.
    SMITH LH
    Am J Med; 1965 Jan; 38():1-6. PubMed ID: 14247288
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.