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PUBMED FOR HANDHELDS

Journal Abstract Search

688 related items for PubMed ID: 17301081

  • 41.
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  • 42. [Carnitine in the treatment of methylmalonic aciduria (MMA)].
    Penn D, Schmidt H, Otten A, Schmidt-Sommerfeld E.
    Monatsschr Kinderheilkd; 1986 Oct; 134(10):758-61. PubMed ID: 2879226
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  • 45. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.
    Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.
    Am J Hum Genet; 2005 Jun; 76(6):1081-6. PubMed ID: 15877282
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  • 46. Infantile mitochondrial disorders.
    Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM.
    Biosci Rep; 2007 Jun; 27(1-3):105-12. PubMed ID: 17486440
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  • 47. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.
    Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
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  • 48. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov; 20(5):406. PubMed ID: 12402345
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  • 52. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
    Lesko N, Naess K, Wibom R, Solaroli N, Nennesmo I, von Döbeln U, Karlsson A, Larsson NG.
    Neuromuscul Disord; 2010 Mar; 20(3):198-203. PubMed ID: 20083405
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  • 53. Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
    Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH.
    Arch Neurol; 2005 Dec; 62(12):1920-3. PubMed ID: 16344351
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  • 55. Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
    Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S.
    Ann Neurol; 2000 May; 47(5):589-95. PubMed ID: 10805329
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  • 56. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
    Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
    Ann Neurol; 2000 Jul; 48(1):102-4. PubMed ID: 10894222
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  • 57. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.
    Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL.
    Mitochondrion; 2013 Nov; 13(6):656-61. PubMed ID: 24063851
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  • 58. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
    Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.
    Hum Mutat; 2006 Jan; 27(1):31-43. PubMed ID: 16281286
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  • 59. Disorders caused by deficiency of succinate-CoA ligase.
    Ostergaard E.
    J Inherit Metab Dis; 2008 Apr; 31(2):226-9. PubMed ID: 18392745
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  • 60. [Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases].
    Castro-Gago M, González-Conde V, Fernández-Seara MJ, Rodrigo-Sáez E, Fernández-Cebrián S, Alonso-Martín A, Campos Y, Arenas J, Eirís-Puñal J.
    Rev Neurol; 2008 Apr; 29(10):912-7. PubMed ID: 10637838
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