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Journal Abstract Search

89 related items for PubMed ID: 18784106

  • 1. Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia.
    Staley KJ, Sims KB, Grant PE, Hedley-Whyte ET.
    N Engl J Med; 2008 Sep 11; 359(11):1156-67. PubMed ID: 18784106
    [No Abstract] [Full Text] [Related]

  • 2. Case records of the Massachusetts General Hospital. Case 17-2009. A 30-year-old man with progressive neurologic deficits.
    Greer DM, Friday RP, Romero J, Auluck PK.
    N Engl J Med; 2009 May 28; 360(22):2341-51. PubMed ID: 19474432
    [No Abstract] [Full Text] [Related]

  • 3. Bull's-eye maculopathy in an infant with Leigh disease.
    Laird PW, Mohney BG, Renaud DL.
    Am J Ophthalmol; 2006 Jul 28; 142(1):186-7. PubMed ID: 16815282
    [Abstract] [Full Text] [Related]

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  • 5. A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.
    Swiderska N, Appleton R, Morris A, Isherwood D, Selby A.
    J Child Neurol; 2010 Jun 28; 25(6):782-5. PubMed ID: 20332385
    [Abstract] [Full Text] [Related]

  • 6. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
    Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H.
    Am J Med Genet A; 2013 Sep 28; 161A(9):2204-15. PubMed ID: 23918762
    [Abstract] [Full Text] [Related]

  • 7. Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.
    Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M.
    N Engl J Med; 2010 Jan 28; 362(4):346-56. PubMed ID: 20107221
    [No Abstract] [Full Text] [Related]

  • 8. [Dystonia as a principal manifestation of Leigh syndrome in an infant].
    Muñoz Hiraldo ME, Martínez Bermejo A, Gutiérrez Molina M, García Melián RM, Arcas Martínez J, Pascual-Castroviejo I.
    An Esp Pediatr; 1993 Apr 28; 38(4):348-50. PubMed ID: 8480948
    [No Abstract] [Full Text] [Related]

  • 9. 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 28; 63(3):405-8. PubMed ID: 18306244
    [Abstract] [Full Text] [Related]

  • 10. Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
    Kondo H, Tanda K, Tabata C, Hayashi K, Kihara M, Kizaki Z, Taniguchi-Ikeda M, Mori M, Murayama K, Ohtake A.
    Brain Dev; 2014 Sep 28; 36(8):730-3. PubMed ID: 24113355
    [Abstract] [Full Text] [Related]

  • 11. Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation.
    Xie S, Xiao JX, Qi ZY, Yang YL, Jiang XX.
    Clin Imaging; 2009 Sep 28; 33(1):1-6. PubMed ID: 19135921
    [Abstract] [Full Text] [Related]

  • 12. [Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
    Zhang Y, Sun F, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Jun 28; 9(3):216-9. PubMed ID: 17582259
    [Abstract] [Full Text] [Related]

  • 13. Case records of the Massachusetts General Hospital. Case 36-2005. A 61-year-old woman with seizure, disturbed gait, and altered mental status.
    Dickerson BC, Holtzman D, Grant PE, Tian D.
    N Engl J Med; 2005 Nov 24; 353(21):2271-80. PubMed ID: 16306525
    [No Abstract] [Full Text] [Related]

  • 14. Case records of the Massachusetts General Hospital. Case 24-2007. A 20-year-old pregnant woman with altered mental status.
    Cole AJ, Henson JW, Roehrl MH, Frosch MP.
    N Engl J Med; 2007 Aug 09; 357(6):589-600. PubMed ID: 17687135
    [No Abstract] [Full Text] [Related]

  • 15. Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
    Diogo L, Cordeiro M, Garcia P, Fineza I, Moura C, Oliveira CR, Veiga M, Garcia T, Grazina M.
    Pediatr Neurol; 2010 Mar 09; 42(3):196-200. PubMed ID: 20159429
    [Abstract] [Full Text] [Related]

  • 16. MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
    Dweikat IM, Abdelrazeq S, Ayesh S, Jundi T.
    J Child Neurol; 2015 Jul 09; 30(8):1053-6. PubMed ID: 25051967
    [Abstract] [Full Text] [Related]

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  • 18. Hypotonia and Lethargy in a Two-Day-Old Male Infant.
    Long AH, Fiore JG, Gillani R, Douglass LM, Fujii AM, Hoffman JD.
    Pediatrics; 2019 Jul 09; 144(1):. PubMed ID: 31227563
    [Abstract] [Full Text] [Related]

  • 19. Mitochondrial disorders.
    Edmond JC.
    Int Ophthalmol Clin; 2009 Jul 09; 49(3):27-33. PubMed ID: 19584620
    [No Abstract] [Full Text] [Related]

  • 20. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.
    Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, Malthièry Y, Mas JL.
    Ann Neurol; 2002 Sep 09; 52(3):374-7. PubMed ID: 12205655
    [Abstract] [Full Text] [Related]

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