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PUBMED FOR HANDHELDS

Journal Abstract Search


97 related items for PubMed ID: 12768508

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  • 24. [Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].
    Rouco Axpe I, Garaizar Axpe C, Labairu Echevarría M, Sanjurjo Crespo P, Aldamiz Echevarría L, Prats Viñas JM.
    Neurologia; 2003 Jun; 18(5):241-7. PubMed ID: 12768509
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  • 25. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
    Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA.
    Neuropediatrics; 2008 Feb; 39(1):20-3. PubMed ID: 18504677
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  • 30. Successful application of preimplantation genetic diagnosis for Leigh syndrome.
    Unsal E, Aktaş Y, Uner O, BaltacI A, Ozcan S, Turhan F, Baltaci V.
    Fertil Steril; 2008 Nov; 90(5):2017.e11-3. PubMed ID: 18778816
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  • 31. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
    Triepels RH, van den Heuvel LP, Loeffen JL, Buskens CA, Smeets RJ, Rubio Gozalbo ME, Budde SM, Mariman EC, Wijburg FA, Barth PG, Trijbels JM, Smeitink JA.
    Ann Neurol; 1999 Jun; 45(6):787-90. PubMed ID: 10360771
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  • 34. Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.
    Lamont RE, Beaulieu CL, Bernier FP, Sparkes R, Innes AM, Jackel-Cram C, Ober C, Parboosingh JS, Lemire EG.
    Am J Med Genet A; 2017 May; 173(5):1452. PubMed ID: 28371264
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  • 35. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.
    Tulinius M, Moslemi AR, Darin N, Westerberg B, Wiklund LM, Holme E, Oldfors A.
    Neuropediatrics; 2003 Apr; 34(2):87-91. PubMed ID: 12776230
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  • 36. [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].
    Pronicka E, Piekutowska-Abramczuk D, Pronicki M.
    Postepy Biochem; 2008 Apr; 54(2):161-8. PubMed ID: 18807927
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  • 37. Characteristic changes on brain CT in a case of Leigh encephalopathy with deficiency of pyruvate dehydrogenase.
    Arai Y, Miyasato Y, Koide H.
    Brain Dev; 1991 Nov; 13(6):457-8. PubMed ID: 1810165
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  • 39. Diffusion-weighted imaging in preclinical Leigh syndrome.
    Kumakura A, Asada J, Okumura R, Fujisawa I, Hata D.
    Pediatr Neurol; 2009 Oct; 41(4):309-11. PubMed ID: 19748055
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  • 40. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
    Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E.
    Eur J Paediatr Neurol; 2009 Mar; 13(2):146-53. PubMed ID: 18583168
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