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Journal Abstract Search

151 related items for PubMed ID: 18825706

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  • 4. 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; 29(2):330-1. PubMed ID: 18205204
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  • 5. 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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  • 9. 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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  • 11. 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 01; 103(3):262-7. PubMed ID: 21478040
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  • 13. Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.
    Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R.
    Liver Transpl; 2014 Apr 01; 20(4):464-72. PubMed ID: 24478274
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  • 14. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
    Buchaklian AH, Helbling D, Ware SM, Dimmock DP.
    Mol Genet Metab; 2012 Sep 01; 107(1-2):92-4. PubMed ID: 22622127
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  • 17. Mutation analysis in 16 patients with mtDNA depletion.
    Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J.
    Hum Mutat; 2003 Apr 01; 21(4):453-4. PubMed ID: 12655576
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  • 19. Deoxyguanosine kinase deficiency: a report of four patients.
    Ünal Ö, Hişmi B, Kılıç M, Gülşen HH, Coşkun T, Sivri SH, Dursun A, Yüce A, Tokatlı A.
    J Pediatr Endocrinol Metab; 2017 May 24; 30(6):697-702. PubMed ID: 28493820
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