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Journal Abstract Search

201 related items for PubMed ID: 17853453

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  • 4. 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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  • 6. 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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  • 9. Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
    Wu SN, E HS, Yu Y, Ling SY, Liang LL, Qiu WJ, Zhang HW, Shuai RX, Wei HY, Yang CJ, Xu P, Chen XG, Zou H, Feng JZ, Niu TT, Hu HL, Zhang KC, Lu DY, Gong ZW, Zhan X, Ji WJ, Gu XF, Chen YX, Han LS.
    World J Pediatr; 2024 Aug; 20(8):848-858. PubMed ID: 38070096
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  • 12. First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type.
    Liu Y, Wang Q, Li X, Ding Y, Song J, Yang Y.
    Brain Dev; 2015 Mar; 37(3):286-91. PubMed ID: 24974159
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  • 13. Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
    Wang F, Han L, Yang Y, Gu X, Ye J, Qiu W, Zhang H, Zhang Y, Gao X, Wang Y.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S435-42. PubMed ID: 20924684
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  • 14. 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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  • 15. 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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  • 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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