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Journal Abstract Search

144 related items for PubMed ID: 21534344

  • 1. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
    Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T.
    Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
    [Abstract] [Full Text] [Related]

  • 2. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horváth R.
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
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  • 3. The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
    Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS.
    Mol Genet Metab; 2009 Jul; 97(3):221-6. PubMed ID: 19394258
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  • 4. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
    Labarthe F, Dobbelaere D, Devisme L, De Muret A, Jardel C, Taanman JW, Gottrand F, Lombès A.
    J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
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  • 9. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A, Giurgea I, Debrey D, Bridoux D, de Lonlay P, Levy P, Chretien D, Brivet M, Legrand A, Rustin P, Munnich A, Rötig A.
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
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  • 10. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
    Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ.
    Mitochondrion; 2010 Mar; 10(2):188-91. PubMed ID: 19900589
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  • 11. Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
    Sezer T, Ozçay F, Balci O, Alehan F.
    J Child Neurol; 2015 Jan; 30(1):124-8. PubMed ID: 24423689
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  • 12. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
    Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S.
    Arch Neurol; 2005 May; 62(5):745-7. PubMed ID: 15883261
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  • 13. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
    Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.
    Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800
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  • 14. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
    Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F.
    Mol Genet Metab; 2011 Jul; 103(3):262-7. PubMed ID: 21478040
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  • 15. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
    El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ.
    Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
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  • 16. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
    Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G.
    J Appl Genet; 2011 Feb; 52(1):61-6. PubMed ID: 21107780
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  • 17. Neonatal liver failure due to deoxyguanosine kinase deficiency.
    Nobre S, Grazina M, Silva F, Pinto C, Gonçalves I, Diogo L.
    BMJ Case Rep; 2012 Apr 02; 2012():. PubMed ID: 22602837
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  • 18. Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
    Franco M, Johansson M, Karlsson A.
    Exp Cell Res; 2007 Jul 15; 313(12):2687-94. PubMed ID: 17490647
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  • 19. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.
    Arch Neurol; 2003 Jul 15; 60(7):1007-9. PubMed ID: 12873860
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  • 20. DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease.
    Kasapkara CS, Tümer L, Küçükçongar A, Hasanoğlu A, Seneca S, De Meirleir L.
    J Pediatr Gastroenterol Nutr; 2013 Nov 15; 57(5):e28-9. PubMed ID: 22868686
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