These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
9. HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency. Mohamed S; Caporali L; De Giorgio R; Carelli V; Contin M J Chromatogr B Analyt Technol Biomed Life Sci; 2014 Feb; 949-950():58-62. PubMed ID: 24463401 [TBL] [Abstract][Full Text] [Related]
12. Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Valentino ML; Martí R; Tadesse S; López LC; Manes JL; Lyzak J; Hahn A; Carelli V; Hirano M FEBS Lett; 2007 Jul; 581(18):3410-4. PubMed ID: 17612528 [TBL] [Abstract][Full Text] [Related]
13. 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; 277(6):4128-33. PubMed ID: 11733540 [TBL] [Abstract][Full Text] [Related]
14. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. Hirano M; Carelli V; De Giorgio R; Pironi L; Accarino A; Cenacchi G; D'Alessandro R; Filosto M; Martí R; Nonino F; Pinna AD; Baldin E; Bax BE; Bolletta A; Bolletta R; Boschetti E; Cescon M; D'Angelo R; Dotti MT; Giordano C; Gramegna LL; Levene M; Lodi R; Mandel H; Morelli MC; Musumeci O; Pugliese A; Scarpelli M; Siniscalchi A; Spinazzola A; Tal G; Torres-Torronteras J; Vignatelli L; Zaidman I; Zoller H; Rinaldi R; Zeviani M J Inherit Metab Dis; 2021 Mar; 44(2):376-387. PubMed ID: 32898308 [TBL] [Abstract][Full Text] [Related]
15. Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Kumagai Y; Sugiura Y; Sugeno H; Takebayashi Y; Takenoshita S; Yamamoto T Intern Med; 2006; 45(7):443-6. PubMed ID: 16679698 [TBL] [Abstract][Full Text] [Related]
16. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Hirano M; Lagier-Tourenne C; Valentino ML; Martí R; Nishigaki Y Gene; 2005 Jul; 354():152-6. PubMed ID: 15975738 [TBL] [Abstract][Full Text] [Related]
17. 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; 22(1):449. PubMed ID: 38741129 [TBL] [Abstract][Full Text] [Related]
18. Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Torres-Torronteras J; Gómez A; Eixarch H; Palenzuela L; Pizzorno G; Hirano M; Andreu AL; Barquinero J; Martí R Gene Ther; 2011 Aug; 18(8):795-806. PubMed ID: 21451581 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease. Patel R; Coulter LL; Rimmer J; Parkes M; Chinnery PF; Swift O BMC Gastroenterol; 2019 Jan; 19(1):11. PubMed ID: 30646848 [TBL] [Abstract][Full Text] [Related]
20. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. Nishigaki Y; Martí R; Copeland WC; Hirano M J Clin Invest; 2003 Jun; 111(12):1913-21. PubMed ID: 12813027 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]