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Journal Abstract Search

300 related items for PubMed ID: 26449400

  • 1. 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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  • 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 15; 25(2):167-76. PubMed ID: 15643616
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  • 7. 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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  • 9. Clinical characteristics and gene mutation analysis of methylmalonic aciduria.
    Yi Q, Lv J, Tian F, Wei H, Ning Q, Luo X.
    J Huazhong Univ Sci Technolog Med Sci; 2011 Jun 15; 31(3):384-389. PubMed ID: 21671183
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  • 11. Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
    Shafaat M, Alaee MR, Rahmanifar A, Setoodeh A, Razzaghy-Azar M, Bagherian H, Bagheri SD, Zafarghandi Motlagh F, Hashemi M, Abiri M, Zeinali S.
    Metab Brain Dis; 2018 Oct 15; 33(5):1689-1697. PubMed ID: 30022420
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  • 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 Oct 15; 64(3):255-61. PubMed ID: 23045948
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  • 13. 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 15; 53(11-12):310-8. PubMed ID: 26370686
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  • 15. 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 15; 27(1):31-43. PubMed ID: 16281286
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  • 17. 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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  • 20. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
    Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML.
    Proc Natl Acad Sci U S A; 1996 May 28; 93(11):5550-5. PubMed ID: 8643613
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