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Journal Abstract Search

179 related items for PubMed ID: 11596342

  • 1. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001; (36):129-31. PubMed ID: 11596342
    [No Abstract] [Full Text] [Related]

  • 2. Respiratory chain complex I deficiency.
    Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA.
    Am J Med Genet; 2001; 106(1):37-45. PubMed ID: 11579423
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.
    Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659
    [Abstract] [Full Text] [Related]

  • 5. [Electron transfer complex I deficiency].
    Goto Y.
    Ryoikibetsu Shokogun Shirizu; 1998 Oct; (19 Pt 2):488-90. PubMed ID: 9645116
    [No Abstract] [Full Text] [Related]

  • 6. [Fatal infantile mitochondrial disease].
    Murakami N.
    Ryoikibetsu Shokogun Shirizu; 2001 Oct; (36):173-5. PubMed ID: 11596361
    [No Abstract] [Full Text] [Related]

  • 7. [Complex II (succinate-ubiquinone reductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Oct; (36):132-4. PubMed ID: 11596343
    [No Abstract] [Full Text] [Related]

  • 8. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
    van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, Smeitink JA.
    Neuropediatrics; 2003 Feb; 34(1):14-22. PubMed ID: 12690563
    [Abstract] [Full Text] [Related]

  • 9. [Complex IV (cytochrome c oxidase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Feb; (36):137-41. PubMed ID: 11596345
    [No Abstract] [Full Text] [Related]

  • 10. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
    Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP.
    Hum Mutat; 2000 Feb; 15(2):123-34. PubMed ID: 10649489
    [Abstract] [Full Text] [Related]

  • 11. [Complex I deficiency due to NDUFS8 gene mutation].
    Ito M.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():441-3. PubMed ID: 12013907
    [No Abstract] [Full Text] [Related]

  • 12. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
    Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O.
    Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244
    [Abstract] [Full Text] [Related]

  • 13. [Respiratory chain enzyme complex I].
    Koga Y, Ueki I.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():478-81. PubMed ID: 12013918
    [No Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency.
    Barrientos A, Casademont J, Genís D, Cardellach F, Fernández-Real JM, Grau JM, Urbano-Márquez A, Estivill X, Nunes V.
    Hum Mutat; 1997 Jun; 10(3):212-6. PubMed ID: 9298821
    [Abstract] [Full Text] [Related]

  • 16. CIA30 complex I assembly factor: a candidate for human complex I deficiency?
    Janssen R, Smeitink J, Smeets R, van Den Heuvel L.
    Hum Genet; 2002 Mar; 110(3):264-70. PubMed ID: 11935339
    [Abstract] [Full Text] [Related]

  • 17. [Optic atrophy/dystonia].
    Ishii A, Ohkoshi N.
    Ryoikibetsu Shokogun Shirizu; 2001 Mar; (36):203-8. PubMed ID: 11596371
    [No Abstract] [Full Text] [Related]

  • 18. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
    Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A.
    J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
    [Abstract] [Full Text] [Related]

  • 19. [Leigh syndrome due to mitochondrial respiratory chain complex II deficiency].
    Ma YY, Wu TF, Liu YP, Wang Q, Song JQ, Xiao JX, Jiang YW, Yang YL.
    Zhongguo Dang Dai Er Ke Za Zhi; 2011 Jul; 13(7):569-72. PubMed ID: 21752325
    [Abstract] [Full Text] [Related]

  • 20. [Mitochondrial diseases with recurrent myoglobinuria].
    Murakami N.
    Ryoikibetsu Shokogun Shirizu; 2001 Jul; (36):183-5. PubMed ID: 11596365
    [No Abstract] [Full Text] [Related]

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