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Journal Abstract Search

349 related items for PubMed ID: 19806564

  • 1. [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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  • 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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  • 4. 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
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  • 10. [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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  • 11. [Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].
    Chen Z, Zhang X, Huang J, Wen P, Wang G, Tang G, Zu Y, Chen X, Cui D, Zhang M, Qi Z, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr; 32(2):218-21. PubMed ID: 25863090
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  • 12. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
    Wang F, Han LS, Hu YH, Yang YL, Ye J, Qiu WJ, Zhang YF, Gao XL, Wang Y, Gu XF.
    Zhonghua Er Ke Za Zhi; 2009 Mar; 47(3):189-93. PubMed ID: 19573432
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  • 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; 73(1):107-10. PubMed ID: 11350191
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  • 14. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.
    Han B, Nie W, Sun M, Liu Y, Cao Z.
    Pediatr Neonatol; 2020 Apr; 61(2):148-154. PubMed ID: 31466887
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  • 15. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Apr; 9(1):1-6. PubMed ID: 8990001
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  • 16. 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 Apr; 44(1):35-9. PubMed ID: 9929975
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  • 19. 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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