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Journal Abstract Search

618 related items for PubMed ID: 16714133

  • 1. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
    Morel CF, Lerner-Ellis JP, Rosenblatt DS.
    Mol Genet Metab; 2006 Aug; 88(4):315-21. PubMed ID: 16714133
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  • 4. 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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  • 7. Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.
    Frattini D, Fusco C, Ucchino V, Tavazzi B, Della Giustina E.
    Pediatr Neurol; 2010 Aug; 43(2):135-8. PubMed ID: 20610126
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  • 9. The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
    Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA.
    Mol Genet Metab; 2024 May; 142(1):108345. PubMed ID: 38387306
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  • 12. 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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  • 13. 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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  • 14. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
    Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.
    Mol Genet Metab; 2006 Mar; 87(3):219-25. PubMed ID: 16410054
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  • 15. 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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  • 16. Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
    Shinnar S, Singer HS.
    N Engl J Med; 1984 Aug 16; 311(7):451-4. PubMed ID: 6749192
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  • 17. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
    Gaillard MC, Matthieu JM, Borruat FX.
    Klin Monbl Augenheilkd; 2008 May 16; 225(5):491-4. PubMed ID: 18454408
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  • 18. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
    Wang J, Li E, Wang L, Wang Z, Yang S, Zhou Q, Chen Q.
    Int J Clin Exp Pathol; 2015 May 16; 8(8):9337-41. PubMed ID: 26464686
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  • 19. Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.
    Passantino R, Mangione MR, Ortore MG, Costa MA, Provenzano A, Amenitsch H, Sabbatella R, Alfano C, Martorana V, Vilasi S.
    Biochim Biophys Acta Proteins Proteom; 2022 Jun 01; 1870(6):140793. PubMed ID: 35618206
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  • 20. Gene discovery in methylmalonic aciduria and homocystinuria.
    Thiele J, Van Raamsdonk JM.
    Clin Genet; 2006 May 01; 69(5):402-3. PubMed ID: 16650077
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