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Journal Abstract Search

260 related items for PubMed ID: 16186538

  • 1. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538
    [Abstract] [Full Text] [Related]

  • 2. 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 27; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 3. A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.
    Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W.
    Neuromuscul Disord; 2006 Dec 27; 16(12):874-7. PubMed ID: 17056256
    [Abstract] [Full Text] [Related]

  • 4. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Dec 27; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 5. [Diagnosis and treatment of methylmalonic aciduria: a case report].
    Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.
    Invest Clin; 2007 Mar 27; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 6. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
    Mol Genet Metab; 2007 Mar 27; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 7. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 2002 Nov 26; 99(24):15554-9. PubMed ID: 12438653
    [Abstract] [Full Text] [Related]

  • 8. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.
    Hum Mutat; 2000 Aug 26; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 9. Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.
    Pulkes T, Liolitsa D, Wills AJ, Hargreaves I, Heales S, Hanna MG.
    Neurology; 2005 Mar 22; 64(6):1091-2. PubMed ID: 15781840
    [No Abstract] [Full Text] [Related]

  • 10. Gene symbol: MUT. Disease: Methylmalonic aciduria.
    Chang H.
    Hum Genet; 2005 Jul 22; 117(2-3):299. PubMed ID: 16156030
    [No Abstract] [Full Text] [Related]

  • 11. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
    Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F.
    Arch Neurol; 2005 Feb 22; 62(2):317-20. PubMed ID: 15710863
    [Abstract] [Full Text] [Related]

  • 12. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb 22; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 13. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Feb 22; 9(1):1-6. PubMed ID: 8990001
    [Abstract] [Full Text] [Related]

  • 14. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C.
    Neuromuscul Disord; 2009 May 22; 19(5):324-9. PubMed ID: 19327992
    [Abstract] [Full Text] [Related]

  • 15. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
    Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.
    Mol Genet Metab; 2006 Aug 22; 88(4):327-33. PubMed ID: 16697227
    [Abstract] [Full Text] [Related]

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  • 17. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
    Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
    Gene; 2016 Jan 15; 576(1 Pt 2):208-13. PubMed ID: 26449400
    [Abstract] [Full Text] [Related]

  • 18. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N, Kollberg G, Moslemi AR, Tulinius M, Holme E, Grönlund MA, Andersson S, Oldfors A.
    Neuromuscul Disord; 2006 Aug 15; 16(8):504-6. PubMed ID: 16806928
    [Abstract] [Full Text] [Related]

  • 19. Methylmalonic aciduria without vitamin B12 deficiency in an adult sibship.
    Giorgio AJ, Trowbridge M, Boone AW, Patten RS.
    N Engl J Med; 1976 Aug 05; 295(6):310-3. PubMed ID: 6909
    [Abstract] [Full Text] [Related]

  • 20. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia].
    Wang F, Han L, Ye J, Qiu W, Zhang Y, Gao X, Wang Y, Yang Y, Gu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct 05; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

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