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Journal Abstract Search

308 related items for PubMed ID: 24974159

  • 1.
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  • 2. Treatment of cobalamin C (cblC) deficiency during pregnancy.
    Brunel-Guitton C, Costa T, Mitchell GA, Lambert M.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S409-12. PubMed ID: 20830523
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  • 4. 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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  • 5. 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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  • 8. 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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  • 9. [Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy].
    Urbón Artero A, Aldana Gómez J, Reig Del Moral C, Nieto Conde C, Merinero Cortés B.
    An Esp Pediatr; 2002 Apr 07; 56(4):337-41. PubMed ID: 11927078
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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 07; 30(5):811. PubMed ID: 17768669
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  • 12. 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 07; 55(9):621-6. PubMed ID: 20631720
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  • 13. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
    Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R.
    Ophthalmic Genet; 2015 Sep 07; 36(3):270-5. PubMed ID: 25687216
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  • 14. 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 07; 33 Suppl 3():S435-42. PubMed ID: 20924684
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  • 15. Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
    Kılıç M, Özgül RK, Dursun A, Tokatlı A, Kalkanoğlu-Sivri HS, Anlar B, Fowler B, Coşkun T.
    Turk J Pediatr; 2013 Dec 07; 55(6):633-6. PubMed ID: 24577983
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  • 16. 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 Dec 07; 8(8):9337-41. PubMed ID: 26464686
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  • 19. 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 07; 110(3):241-7. PubMed ID: 23954310
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