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Journal Abstract Search

246 related items for PubMed ID: 9929975

  • 1. 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; 44(1):35-9. PubMed ID: 9929975
    [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. 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 Feb; 11(4):270-4. PubMed ID: 9554742
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  • 4. 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
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  • 5. 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]

  • 6. 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]

  • 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. 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 26; 27(1):31-43. PubMed ID: 16281286
    [Abstract] [Full Text] [Related]

  • 9. [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 Jan 26; 64(3):255-61. PubMed ID: 23045948
    [Abstract] [Full Text] [Related]

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  • 11. 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 26; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 12. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia.
    Ogasawara M, Matsubara Y, Mikami H, Narisawa K.
    Hum Mol Genet; 1994 Jun 26; 3(6):867-72. PubMed ID: 7951229
    [Abstract] [Full Text] [Related]

  • 13. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
    Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.
    Mol Genet Metab; 2001 May 26; 73(1):107-10. PubMed ID: 11350191
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  • 15. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
    Thomä NH, Leadlay PF.
    Protein Sci; 1996 Sep 26; 5(9):1922-7. PubMed ID: 8880917
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  • 17. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul 26; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 18. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
    Richard E, Monteoliva L, Juarez S, Pérez B, Desviat LR, Ugarte M, Albar JP.
    J Proteome Res; 2006 Jul 26; 5(7):1602-10. PubMed ID: 16823967
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  • 20. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul 26; 27(7):640-3. PubMed ID: 16752391
    [Abstract] [Full Text] [Related]

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