178 related articles for article (PubMed ID: 22215544)
1. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
Martí R; López LC; Hirano M
Methods Mol Biol; 2012; 837():121-33. PubMed ID: 22215544
[TBL] [Abstract][Full Text] [Related]
2. 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; 50(1):120-4. PubMed ID: 14633909
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Infusion of platelets transiently reduces nucleoside overload in MNGIE.
Lara MC; Weiss B; Illa I; Madoz P; Massuet L; Andreu AL; Valentino ML; Anikster Y; Hirano M; Martí R
Neurology; 2006 Oct; 67(8):1461-3. PubMed ID: 16971699
[TBL] [Abstract][Full Text] [Related]
6. 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; 58(4):649-52. PubMed ID: 16178026
[TBL] [Abstract][Full Text] [Related]
7. Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.
Torres-Torronteras J; Cabrera-Pérez R; Vila-Julià F; Viscomi C; Cámara Y; Hirano M; Zeviani M; Martí R
Hum Gene Ther; 2018 Jun; 29(6):708-718. PubMed ID: 29284302
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency.
Martí R; Nishigaki Y; Hirano M
Biochem Biophys Res Commun; 2003 Mar; 303(1):14-8. PubMed ID: 12646159
[TBL] [Abstract][Full Text] [Related]
10. 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; 84(4):326-31. PubMed ID: 15781193
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.
Bariş Z; Eminoğlu T; Dalgiç B; Tümer L; Hasanoğlu A
Eur J Pediatr; 2010 Nov; 169(11):1375-8. PubMed ID: 20585803
[TBL] [Abstract][Full Text] [Related]
12. Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
Röeben B; Marquetand J; Bender B; Billing H; Haack TB; Sanchez-Albisua I; Schöls L; Blom HJ; Synofzik M
Orphanet J Rare Dis; 2017 Aug; 12(1):135. PubMed ID: 28764801
[TBL] [Abstract][Full Text] [Related]
13. Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
Bakker JA; Schlesser P; Smeets HJ; Francois B; Bierau J
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S139-43. PubMed ID: 20151198
[TBL] [Abstract][Full Text] [Related]
14. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M; Nishigaki Y; Martí R
Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation.
Ariaudo C; Daidola G; Ferrero B; Guarena C; Burdese M; Segoloni GP; Biancone L
J Nephrol; 2015 Feb; 28(1):125-7. PubMed ID: 24599829
[TBL] [Abstract][Full Text] [Related]
16. Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E; D'Angelo R; Tardio ML; Costa R; Giordano C; Accarino A; Malagelada C; Clavenzani P; Tugnoli V; Caio G; Righi V; Garone C; D'Errico A; Cenacchi G; Dotti MT; Stanghellini V; Sternini C; Pironi L; Rinaldi R; Carelli V; De Giorgio R
Am J Physiol Gastrointest Liver Physiol; 2021 May; 320(5):G768-G779. PubMed ID: 33655764
[TBL] [Abstract][Full Text] [Related]
17. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy.
Garcia-Diaz B; Garone C; Barca E; Mojahed H; Gutierrez P; Pizzorno G; Tanji K; Arias-Mendoza F; Quinzii CM; Hirano M
Brain; 2014 May; 137(Pt 5):1337-49. PubMed ID: 24727567
[TBL] [Abstract][Full Text] [Related]
18. Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.
Vila-Julià F; Cabrera-Pérez R; Cámara Y; Molina-Berenguer M; Lope-Piedrafita S; Hirano M; Mingozzi F; Torres-Torronteras J; Martí R
EBioMedicine; 2020 Dec; 62():103133. PubMed ID: 33232869
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Halter JP; Michael W; Schüpbach M; Mandel H; Casali C; Orchard K; Collin M; Valcarcel D; Rovelli A; Filosto M; Dotti MT; Marotta G; Pintos G; Barba P; Accarino A; Ferra C; Illa I; Beguin Y; Bakker JA; Boelens JJ; de Coo IF; Fay K; Sue CM; Nachbaur D; Zoller H; Sobreira C; Pinto Simoes B; Hammans SR; Savage D; Martí R; Chinnery PF; Elhasid R; Gratwohl A; Hirano M
Brain; 2015 Oct; 138(Pt 10):2847-58. PubMed ID: 26264513
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
