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Journal Abstract Search


241 related items for PubMed ID: 16451139

  • 1. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
    Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A.
    Clin Genet; 2006 Jan; 69(1):72-6. PubMed ID: 16451139
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  • 3. 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 Jan; 86(1-2):160-71. PubMed ID: 16150626
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  • 4. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
    Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR.
    Mol Genet Metab; 2007 Mar; 90(3):284-90. PubMed ID: 17113806
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  • 9. [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; 26(5):485-9. PubMed ID: 19806564
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  • 10. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.
    Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.
    Hum Mutat; 2006 Jul; 27(7):640-3. PubMed ID: 16752391
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  • 13. 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; 84(4):317-25. PubMed ID: 15781192
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  • 14. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
    Shigematsu Y, Hata I, Nakai A, Kikawa Y, Sudo M, Tanaka Y, Yamaguchi S, Jakobs C.
    Pediatr Res; 1996 Apr; 39(4 Pt 1):680-4. PubMed ID: 8848345
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  • 18. 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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  • 19. Gestational age-related reference values for amniotic fluid organic acids.
    Ottolenghi C, Abermil N, Lescoat A, Aupetit J, Beaugendre O, Morichon-Delvallez N, Ricquier D, Chadefaux-Vekemans B, Rabier D.
    Prenat Diagn; 2010 Jan 07; 30(1):43-8. PubMed ID: 19950217
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