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334 related items for PubMed ID: 10923046

  • 1. 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; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 2. 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; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 3. 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; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 4. 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; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

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

  • 7. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
    Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.
    Hum Mutat; 2006 Jan; 27(1):31-43. PubMed ID: 16281286
    [Abstract] [Full Text] [Related]

  • 8. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
    Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.
    Mol Genet Metab; 2005 Apr; 84(4):317-25. PubMed ID: 15781192
    [Abstract] [Full Text] [Related]

  • 9. [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; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.
    Biochem Genet; 2007 Jun; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 11. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
    Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.
    Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
    [Abstract] [Full Text] [Related]

  • 12. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
    Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.
    Rev Invest Clin; 2012 Mar; 64(3):255-61. PubMed ID: 23045948
    [Abstract] [Full Text] [Related]

  • 13. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K.
    J Hum Genet; 1999 Mar; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 14. [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; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 15. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.
    Hum Mutat; 2007 Oct; 28(10):1045. PubMed ID: 17823972
    [Abstract] [Full Text] [Related]

  • 16. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
    Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.
    Mol Genet Metab; 2016 Aug; 118(4):264-71. PubMed ID: 27233228
    [Abstract] [Full Text] [Related]

  • 17. 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; 88(4):327-33. PubMed ID: 16697227
    [Abstract] [Full Text] [Related]

  • 18. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
    Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.
    Rinsho Byori; 1995 Jun; 43(6):625-9. PubMed ID: 7602808
    [Abstract] [Full Text] [Related]

  • 19. [A molecular study of methylmalonic aciduria: structure-function correlations].
    Rosenblatt DS, Ledley FD.
    Bull Acad Natl Med; 1996 Oct; 180(7):1553-63; discussion 1563-4. PubMed ID: 9102141
    [Abstract] [Full Text] [Related]

  • 20. 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]

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