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Journal Abstract Search

295 related items for PubMed ID: 21835369

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  • 3. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
    Zong Y, Liu N, Zhao Z, Kong X.
    BMC Med Genet; 2015 Jul 07; 16():48. PubMed ID: 26149271
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  • 4. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
    Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS.
    Nat Genet; 2006 Jan 07; 38(1):93-100. PubMed ID: 16311595
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  • 5. 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 07; 93(4):475-80. PubMed ID: 18164228
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  • 6. 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 Apr 07; 8(8):9337-41. PubMed ID: 26464686
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  • 7. Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
    Weisfeld-Adams JD, Morrissey MA, Kirmse BM, Salveson BR, Wasserstein MP, McGuire PJ, Sunny S, Cohen-Pfeffer JL, Yu C, Caggana M, Diaz GA.
    Mol Genet Metab; 2010 Feb 07; 99(2):116-23. PubMed ID: 19836982
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  • 10. 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 07; 30(5):811. PubMed ID: 17768669
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  • 11. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gerth C, Morel CF, Feigenbaum A, Levin AV.
    J AAPOS; 2008 Dec 07; 12(6):591-6. PubMed ID: 18848477
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  • 12. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.
    Wang X, Sun W, Yang Y, Jia J, Li C.
    J Neurol Sci; 2012 Jul 15; 318(1-2):155-9. PubMed ID: 22560872
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  • 13. [Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].
    Yu YF, Li F, Ma HW.
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Aug 15; 17(8):769-74. PubMed ID: 26287336
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  • 16. 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 15; 43(2):135-8. PubMed ID: 20610126
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  • 17. Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
    Hu S, Mei S, Liu N, Kong X.
    BMC Med Genet; 2018 Aug 29; 19(1):154. PubMed ID: 30157807
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  • 18. Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.
    Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA.
    Mol Genet Metab; 2013 Nov 29; 110(3):241-7. PubMed ID: 23954310
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  • 19. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
    Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA.
    Am J Med Genet A; 2007 Oct 15; 143A(20):2430-4. PubMed ID: 17853453
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  • 20. PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
    Cavicchi C, Oussalah A, Falliano S, Ferri L, Gozzini A, Gasperini S, Motta S, Rigoldi M, Parenti G, Tummolo A, Meli C, Menni F, Furlan F, Daniotti M, Malvagia S, la Marca G, Chery C, Morange PE, Tregouet D, Donati MA, Guerrini R, Guéant JL, Morrone A.
    Clin Epigenetics; 2021 Jul 02; 13(1):137. PubMed ID: 34215320
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