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Journal Abstract Search

223 related items for PubMed ID: 11733540

  • 1. Altered thymidine metabolism due to defects of thymidine phosphorylase.
    Spinazzola A, Marti R, Nishino I, Andreu AL, Naini A, Tadesse S, Pela I, Zammarchi E, Donati MA, Oliver JA, Hirano M.
    J Biol Chem; 2002 Feb 08; 277(6):4128-33. PubMed ID: 11733540
    [Abstract] [Full Text] [Related]

  • 2. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
    Hirano M, Nishigaki Y, Martí R.
    Neurologist; 2004 Jan 08; 10(1):8-17. PubMed ID: 14720311
    [Abstract] [Full Text] [Related]

  • 3. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
    Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M.
    Ann Neurol; 2000 Jun 08; 47(6):792-800. PubMed ID: 10852545
    [Abstract] [Full Text] [Related]

  • 4. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
    Nishino I, Spinazzola A, Hirano M.
    Science; 1999 Jan 29; 283(5402):689-92. PubMed ID: 9924029
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  • 5. Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
    Martí R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M.
    Clin Chem; 2004 Jan 29; 50(1):120-4. PubMed ID: 14633909
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  • 6. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
    Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A.
    Mol Genet Metab; 2005 Apr 29; 84(4):326-31. PubMed ID: 15781193
    [Abstract] [Full Text] [Related]

  • 7. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.
    Hirano M, Martí R, Spinazzola A, Nishino I, Nishigaki Y.
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct 29; 23(8-9):1217-25. PubMed ID: 15571233
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  • 8. Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
    Hirano M, Lagier-Tourenne C, Valentino ML, Martí R, Nishigaki Y.
    Gene; 2005 Jul 18; 354():152-6. PubMed ID: 15975738
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  • 12. Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.
    Du J, Liu F, Liu X, Zhao D, Wang D, Sun H, Yan C, Zhao Y.
    J Transl Med; 2024 May 13; 22(1):449. PubMed ID: 38741129
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  • 14. Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
    Martí R, Verschuuren JJ, Buchman A, Hirano I, Tadesse S, van Kuilenburg AB, van Gennip AH, Poorthuis BJ, Hirano M.
    Ann Neurol; 2005 Oct 13; 58(4):649-52. PubMed ID: 16178026
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  • 16. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.
    Martí R, Nishigaki Y, Hirano M.
    Biochem Biophys Res Commun; 2003 Mar 28; 303(1):14-8. PubMed ID: 12646159
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  • 17. Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.
    Massa R, Tessa A, Margollicci M, Micheli V, Romigi A, Tozzi G, Terracciano C, Piemonte F, Bernardi G, Santorelli FM.
    Neuromuscul Disord; 2009 Dec 28; 19(12):837-40. PubMed ID: 19853446
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  • 18. Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
    Du J, Zhang C, Liu F, Liu X, Wang D, Zhao D, Shui G, Zhao Y, Yan C.
    J Mol Med (Berl); 2023 Oct 28; 101(10):1237-1253. PubMed ID: 37603049
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  • 19. Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.
    Martí R, Nishigaki Y, Vilá MR, Hirano M.
    Clin Chem Lab Med; 2003 Jul 28; 41(7):845-51. PubMed ID: 12940507
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