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Journal Abstract Search

234 related items for PubMed ID: 17445044

  • 21. Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.
    Thomä NH, Leadlay PF.
    Protein Sci; 1996 Sep; 5(9):1922-7. PubMed ID: 8880917
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  • 24. [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 Sep; 64(3):255-61. PubMed ID: 23045948
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  • 27. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
    Chandler RJ, Venditti CP.
    Hum Gene Ther; 2008 Jan; 19(1):53-60. PubMed ID: 18052792
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  • 28. [Acidemia, methylmalonic].
    Matsubara Y.
    Ryoikibetsu Shokogun Shirizu; 2001 Jan; (33):97-9. PubMed ID: 11462735
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  • 31. 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 Jan; 11(4):270-4. PubMed ID: 9554742
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  • 34. 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; 27(7):640-3. PubMed ID: 16752391
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  • 35. 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
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  • 36. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
    Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.
    BMC Med Genet; 2007 Oct 15; 8():64. PubMed ID: 17937813
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  • 37. Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
    Dündar H, Özgül RK, Güzel-Ozantürk A, Dursun A, Sivri S, Aliefendioğlu D, Coşkun T, Tokatli A.
    Mol Genet Metab; 2012 Aug 15; 106(4):419-23. PubMed ID: 22727635
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  • 38. 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 15; 84(4):317-25. PubMed ID: 15781192
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  • 39. Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
    Kolhouse JF, Utley C, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1981 Dec 15; 78(12):7737-41. PubMed ID: 6121323
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  • 40. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
    Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T.
    Orphanet J Rare Dis; 2019 Apr 25; 14(1):84. PubMed ID: 31023387
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