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Journal Abstract Search

396 related items for PubMed ID: 12438653

  • 1. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 2002 Nov 26; 99(24):15554-9. PubMed ID: 12438653
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  • 3. Gene identification for the cblD defect of vitamin B12 metabolism.
    Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B.
    N Engl J Med; 2008 Apr 03; 358(14):1454-64. PubMed ID: 18385497
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  • 5. 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 03; 84(4):317-25. PubMed ID: 15781192
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  • 7. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.
    Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS.
    Mol Genet Metab; 2005 Apr 03; 86(1-2):160-71. PubMed ID: 16150626
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  • 8. 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 03; 44(1):35-9. PubMed ID: 9929975
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  • 9. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
    Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS.
    Hum Mutat; 2004 Dec 03; 24(6):509-16. PubMed ID: 15523652
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  • 10. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
    Zhang DL, Ji L, Li YD.
    Yi Chuan Xue Bao; 2004 May 03; 31(5):431-43. PubMed ID: 15478601
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  • 13. [A molecular study of methylmalonic aciduria: structure-function correlations].
    Rosenblatt DS, Ledley FD.
    Bull Acad Natl Med; 1996 Oct 03; 180(7):1553-63; discussion 1563-4. PubMed ID: 9102141
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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 03; 27(1):31-43. PubMed ID: 16281286
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  • 16. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).
    Watkins D, Matiaszuk N, Rosenblatt DS.
    J Med Genet; 2000 Jul 03; 37(7):510-3. PubMed ID: 10882753
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  • 17. 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 03; 87(3):219-25. PubMed ID: 16410054
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  • 18. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE).
    Gradinger AB, Bélair C, Worgan LC, Li CD, Lavallée J, Roquis D, Watkins D, Rosenblatt DS.
    Hum Mutat; 2007 Oct 03; 28(10):1045. PubMed ID: 17823972
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  • 19. [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 03; 26(5):485-9. PubMed ID: 19806564
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  • 20. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538
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