Page last updated: 2024-08-21

deoxyuridine and Encephalomyopathies, Mitochondrial

deoxyuridine has been researched along with Encephalomyopathies, Mitochondrial in 16 studies

Research

Studies (16)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's10 (62.50)29.6817
2010's6 (37.50)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bender, B; Billing, H; Blom, HJ; Haack, TB; Marquetand, J; Röeben, B; Sanchez-Albisua, I; Schöls, L; Synofzik, M1
Bax, BE; Enguita, FJ; Levene, M1
Chinnery, PF; Coulter, LL; Parkes, M; Patel, R; Rimmer, J; Swift, O1
Caporali, L; Carelli, V; Contin, M; De Giorgio, R; Mohamed, S1
Boschetti, E; Caporali, L; Capristo, M; Carelli, V; Contin, M; D'Angelo, R; De Giorgio, R; Dotti, MT; Mohamed, S; Pinna, AD; Pironi, L; Rinaldi, R1
Hirano, M; López, LC; Martí, R1
Carrey, EA; Duley, JA; Fairbanks, LD; Hammans, SR; Marinaki, AM1
Copeland, WC; Hirano, M; Martí, R; Nishigaki, Y1
Hirano, M; Marti, R; Nishigaki, Y2
Hirano, M; Martí, R; Nishigaki, Y; Nishino, I; Spinazzola, A; Tadesse, S1
Bianchi, V; Crocco, L; Fabris, S; Ferraro, P; Pontarin, G; Reichard, P1
Hirano, M; Lagier-Tourenne, C; Martí, R; Nishigaki, Y; Valentino, ML1
Andreu, AL; Anikster, Y; Hirano, M; Illa, I; Lara, MC; Madoz, P; Martí, R; Massuet, L; Valentino, ML; Weiss, B1
Christensen, E; Christensen, M; Elmaci, M; Ozel, A; Schwartz, M; Vissing, J; Yavuz, H1
Carelli, V; Hahn, A; Hirano, M; López, LC; Lyzak, J; Manes, JL; Martí, R; Tadesse, S; Valentino, ML1

Reviews

1 review(s) available for deoxyuridine and Encephalomyopathies, Mitochondrial

ArticleYear
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
    The neurologist, 2004, Volume: 10, Issue:1

    Topics: Adolescent; Adult; Aldehyde-Lyases; Brain; Cachexia; Child; Child, Preschool; Co-Repressor Proteins; Dementia; Deoxyuridine; DNA Mutational Analysis; DNA, Mitochondrial; Female; Gastrointestinal Motility; Humans; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Mitochondrial Diseases; Mitochondrial Encephalomyopathies; Point Mutation; Repressor Proteins; Thymidine Phosphorylase

2004

Other Studies

15 other study(ies) available for deoxyuridine and Encephalomyopathies, Mitochondrial

ArticleYear
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
    Orphanet journal of rare diseases, 2017, 08-01, Volume: 12, Issue:1

    Topics: Adult; Central Nervous System Diseases; Deoxyuridine; Humans; Intestinal Pseudo-Obstruction; Male; Mitochondrial Encephalomyopathies; Muscular Dystrophy, Oculopharyngeal; Mutation; Ophthalmoplegia; Rare Diseases; Renal Dialysis; Thymidine; Thymidine Phosphorylase

2017
Discovery profiling and bioinformatics analysis of serum microRNA in Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE).
    Nucleosides, nucleotides & nucleic acids, 2018, Volume: 37, Issue:11

    Topics: Computational Biology; Deoxyuridine; Gene Expression Regulation; Humans; MicroRNAs; Mitochondria; Mitochondrial Encephalomyopathies; Mutation; Nucleotidases; Signal Transduction; Thymidine; Thymidine Phosphorylase

2018
Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.
    BMC gastroenterology, 2019, Jan-15, Volume: 19, Issue:1

    Topics: Adult; Age of Onset; Azathioprine; Crohn Disease; Deoxyuridine; Diagnosis, Differential; Female; Gastrointestinal Diseases; Humans; Mitochondrial Encephalomyopathies; Phenotype; Point Mutation; Retrospective Studies; Thymidine; Thymidine Phosphorylase; White Matter

2019
HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2014, Feb-15, Volume: 949-950

    Topics: Adult; Chromatography, High Pressure Liquid; Deoxyuridine; Female; Humans; Intestinal Pseudo-Obstruction; Linear Models; Male; Mitochondrial Encephalomyopathies; Muscular Dystrophy, Oculopharyngeal; Ophthalmoplegia; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet; Thymidine

2014
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
    Mitochondrion, 2017, Volume: 34

    Topics: Deoxyuridine; Female; Humans; Intestinal Pseudo-Obstruction; Liver Transplantation; Male; Metabolism; Mitochondrial Encephalomyopathies; Muscular Dystrophy, Oculopharyngeal; Ophthalmoplegia; Thymidine; Thymidine Phosphorylase; Treatment Outcome; Young Adult

2017
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity.
    Methods in molecular biology (Clifton, N.J.), 2012, Volume: 837

    Topics: Analytic Sample Preparation Methods; Deoxyuridine; Enzyme Assays; Humans; Intestinal Pseudo-Obstruction; Mitochondrial Encephalomyopathies; Muscular Dystrophy, Oculopharyngeal; Ophthalmoplegia; Thymidine; Thymidine Phosphorylase

2012
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:7

    Topics: Adult; Biomarkers; Deoxyuridine; DNA, Mitochondrial; Female; Humans; Mitochondrial Encephalomyopathies; Mutation; Thymidine Phosphorylase

2002
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency.
    The Journal of clinical investigation, 2003, Volume: 111, Issue:12

    Topics: Base Sequence; Cells, Cultured; Deoxyuridine; DNA Mutational Analysis; DNA, Mitochondrial; Electron Transport Complex IV; Gastrointestinal Diseases; Humans; Mitochondrial Encephalomyopathies; Models, Genetic; Point Mutation; Polymorphism, Restriction Fragment Length; Sequence Deletion; Thymidine Phosphorylase

2003
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
    Human molecular genetics, 2004, Jan-01, Volume: 13, Issue:1

    Topics: Base Sequence; Blotting, Southern; Deoxyuridine; DNA, Mitochondrial; Electron Transport Complex I; Humans; Mitochondrial Encephalomyopathies; Mitochondrial Proteins; Models, Genetic; Molecular Sequence Data; Muscle, Skeletal; Polymerase Chain Reaction; Sequence Analysis, DNA; Sequence Deletion; Thymidine; Thymidine Phosphorylase

2004
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays.
    Clinical chemistry, 2004, Volume: 50, Issue:1

    Topics: Chromatography, High Pressure Liquid; Deoxyuridine; Gastrointestinal Diseases; Humans; Mitochondrial Encephalomyopathies; Mutation; Thymidine; Thymidine Phosphorylase

2004
Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    The Journal of biological chemistry, 2005, Jul-01, Volume: 280, Issue:26

    Topics: Cell Line; Cell Proliferation; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Culture Media; Cytosol; Deoxyribonucleotides; Deoxyuridine; DNA, Mitochondrial; Fibroblasts; Humans; Mitochondria; Mitochondrial Encephalomyopathies; Phosphorylation; Thymidine; Thymidine Kinase; Thymidine Phosphorylase; Time Factors

2005
Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
    Gene, 2005, Jul-18, Volume: 354

    Topics: Deoxyuridine; DNA, Mitochondrial; Humans; Kidney; Mitochondrial Encephalomyopathies; Models, Biological; Mutation; Thymidine; Thymidine Phosphorylase

2005
Infusion of platelets transiently reduces nucleoside overload in MNGIE.
    Neurology, 2006, Oct-24, Volume: 67, Issue:8

    Topics: Adolescent; Adult; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Male; Mitochondrial Encephalomyopathies; Nervous System Diseases; Platelet Transfusion; Thymidine; Thymidine Phosphorylase

2006
Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.
    Archives of neurology, 2007, Volume: 64, Issue:3

    Topics: Adolescent; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Longitudinal Studies; Magnetic Resonance Imaging; Mitochondrial Encephalomyopathies; Peritoneal Dialysis; Thymidine

2007
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
    FEBS letters, 2007, Jul-24, Volume: 581, Issue:18

    Topics: Adolescent; Adult; Autopsy; Biopsy; Deoxyuridine; Female; Gastrointestinal Diseases; Humans; Infant; Male; Mitochondrial Encephalomyopathies; Oxygen; Thymidine; Thymidine Phosphorylase

2007