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Journal Abstract Search

140 related items for PubMed ID: 12013909

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  • 3. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.
    Chin Med J (Engl); 2006 Mar 05; 119(5):373-7. PubMed ID: 16542579
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  • 7. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis.
    Williams SL, Taanman JW, Hansíková H, Houst'ková H, Chowdhury S, Zeman J, Houstek J.
    Mol Genet Metab; 2001 Aug 05; 73(4):340-3. PubMed ID: 11509016
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  • 8. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
    Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S.
    J Child Neurol; 2005 Aug 05; 20(8):670-4. PubMed ID: 16225813
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  • 12. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.
    Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA.
    J Med Genet; 2011 Mar 05; 48(3):183-9. PubMed ID: 21266382
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  • 14. The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.
    Coenen MJ, Smeitink JA, Farhoud MH, Nijtmans LG, Rodenburg R, Janssen A, van Kaauwen EP, Trijbels FJ, van den Heuvel LP.
    J Inherit Metab Dis; 2006 Feb 05; 29(1):212-3. PubMed ID: 16601896
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  • 16. [Complex IV (cytochrome c oxidase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Feb 05; (36):137-41. PubMed ID: 11596345
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  • 18. Human cytochrome oxidase deficiency.
    Robinson BH.
    Pediatr Res; 2000 Nov 05; 48(5):581-5. PubMed ID: 11044474
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  • 19. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
    Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA.
    Biochem Biophys Res Commun; 1999 Nov 19; 265(2):339-44. PubMed ID: 10558868
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  • 20. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.
    Yüksel A, Seven M, Cetincelik U, Yeşil G, Köksal V.
    Pediatr Neurol; 2006 Jun 19; 34(6):486-9. PubMed ID: 16765830
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