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Journal Abstract Search

146 related items for PubMed ID: 7602808

  • 21. Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
    Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V.
    Biochem Genet; 2015 Dec; 53(11-12):310-8. PubMed ID: 26370686
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  • 22. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
    Ledley FD, Crane AM, Lumetta M.
    Am J Hum Genet; 1990 Mar; 46(3):539-47. PubMed ID: 1968706
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  • 23. 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
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  • 25. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
    Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Apr; 87(8):3147-50. PubMed ID: 1970180
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  • 29. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid.
    Narasimhan P, Sklar R, Murrell M, Swanson RA, Sharp FR.
    J Neurosci; 1996 Nov 15; 16(22):7336-46. PubMed ID: 8929440
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  • 30. 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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  • 31. A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
    Touraine RL, Rolland MO, Divry P, Mathieu M, Guibaud P, Bozon D.
    Hum Mutat; 1995 Apr 15; 5(4):354-6. PubMed ID: 7627195
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  • 36. 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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  • 37. 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 15; 28(10):1045. PubMed ID: 17823972
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  • 38. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.
    Biochem Biophys Res Commun; 2012 Nov 02; 427(4):753-7. PubMed ID: 23041189
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