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Journal Abstract Search

392 related items for PubMed ID: 27233228

  • 1. 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
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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; 25(2):167-76. PubMed ID: 15643616
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  • 3. 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
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  • 6. Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts.
    Wilkemeyer MF, Crane AM, Ledley FD.
    J Clin Invest; 1991 Mar; 87(3):915-8. PubMed ID: 1671869
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  • 8. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
    Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E.
    J Inherit Metab Dis; 2016 Mar; 39(2):243-52. PubMed ID: 26475597
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  • 11. [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
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  • 14. [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
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  • 15. Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
    Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y.
    Brain Dev; 2016 Jan; 38(1):61-7. PubMed ID: 26028457
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  • 17. 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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  • 18. Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.
    Kong XD, Shi HR, Liu N, Wu QH, Xu XJ, Zhao ZH, Lu N, Li-Ling J, Luo D.
    Genet Mol Res; 2014 Oct 08; 13(4):8234-40. PubMed ID: 25299208
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