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Journal Abstract Search

911 related items for PubMed ID: 16311595

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  • 5. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
    Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B.
    Hum Mutat; 2009 Jul; 30(7):1072-81. PubMed ID: 19370762
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  • 6. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
    Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC.
    Pediatr Neonatol; 2011 Aug; 52(4):223-6. PubMed ID: 21835369
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  • 7. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
    Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B, MMACHC Working Group.
    Hum Mutat; 2009 Nov; 30(11):1558-66. PubMed ID: 19760748
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  • 10. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
    Nogueira C, Aiello C, Cerone R, Martins E, Caruso U, Moroni I, Rizzo C, Diogo L, Leão E, Kok F, Deodato F, Schiaffino MC, Boenzi S, Danhaive O, Barbot C, Sequeira S, Locatelli M, Santorelli FM, Uziel G, Vilarinho L, Dionisi-Vici C.
    Mol Genet Metab; 2008 Apr; 93(4):475-80. PubMed ID: 18164228
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  • 11. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
    Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.
    J Inherit Metab Dis; 2007 Oct; 30(5):811. PubMed ID: 17768669
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  • 12. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.
    Froese DS, Zhang J, Healy S, Gravel RA.
    Mol Genet Metab; 2009 Dec; 98(4):338-43. PubMed ID: 19700356
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  • 13. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
    Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Qi Y, Hsiao KJ, Liu TT.
    J Hum Genet; 2010 Sep; 55(9):621-6. PubMed ID: 20631720
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  • 17. Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
    Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E.
    Biochim Biophys Acta; 2010 Nov; 1802(11):959-67. PubMed ID: 20696242
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  • 20. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gerth C, Morel CF, Feigenbaum A, Levin AV.
    J AAPOS; 2008 Dec; 12(6):591-6. PubMed ID: 18848477
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