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Journal Abstract Search

188 related items for PubMed ID: 21478040

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. 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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  • 7. 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 Apr 02; 53(1):79-82. PubMed ID: 21534344
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  • 9. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
    Buchaklian AH, Helbling D, Ware SM, Dimmock DP.
    Mol Genet Metab; 2012 Sep 02; 107(1-2):92-4. PubMed ID: 22622127
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  • 12. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
    Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D.
    Biochem J; 2007 Mar 01; 402(2):377-85. PubMed ID: 17073823
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  • 13. 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 01; 30(1):124-8. PubMed ID: 24423689
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  • 14. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
    Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F.
    Liver Transpl; 2008 Oct 01; 14(10):1480-5. PubMed ID: 18825706
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  • 15. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
    Wang L, Limongelli A, Vila MR, Carrara F, Zeviani M, Eriksson S.
    Mol Genet Metab; 2005 Jan 01; 84(1):75-82. PubMed ID: 15639197
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  • 18. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
    Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ.
    Hum Mutat; 2008 Feb 01; 29(2):330-1. PubMed ID: 18205204
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  • 19. 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 01; 62(5):745-7. PubMed ID: 15883261
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  • 20. 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 01; 86(4):462-5. PubMed ID: 16263314
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