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Journal Abstract Search

198 related items for PubMed ID: 16156030

  • 21. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
    Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
    Gene; 2016 Jan 15; 576(1 Pt 2):208-13. PubMed ID: 26449400
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  • 23. [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 15; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

  • 24. 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 15; 87(3):219-25. PubMed ID: 16410054
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  • 25. Treatment of a methylmalonyl-CoA mutase stopcodon mutation.
    Buck NE, Wood LR, Hamilton NJ, Bennett MJ, Peters HL.
    Biochem Biophys Res Commun; 2012 Nov 02; 427(4):753-7. PubMed ID: 23041189
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  • 26. 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 02; 27(7):640-3. PubMed ID: 16752391
    [Abstract] [Full Text] [Related]

  • 27. Stop codon read-through of a methylmalonic aciduria mutation.
    Buck NE, Wood L, Hu R, Peters HL.
    Mol Genet Metab; 2009 Aug 02; 97(4):244-9. PubMed ID: 19427250
    [Abstract] [Full Text] [Related]

  • 28. Management of West syndrome in a patient with methylmalonic aciduria.
    Campeau PM, Valayannopoulos V, Touati G, Bahi-Buisson N, Boddaert N, Plouin P, Rabier D, Benoist JF, Dulac O, de Lonlay P, Desguerre I.
    J Child Neurol; 2010 Jan 02; 25(1):94-7. PubMed ID: 19700743
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  • 30. Studies on cultured fibroblasts in a case of methylmalonic aciduria.
    Davidson JS, Lloyd A, Christianson A, Harley EH, Berger GM.
    S Afr Med J; 1984 Feb 18; 65(7):257-60. PubMed ID: 6141644
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  • 32. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
    Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.
    Mol Genet Metab; 2016 Aug 18; 118(4):264-71. PubMed ID: 27233228
    [Abstract] [Full Text] [Related]

  • 33. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency.
    Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS.
    Am J Med Genet; 1993 Mar 01; 45(5):619-24. PubMed ID: 7681251
    [Abstract] [Full Text] [Related]

  • 34. 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 01; 84(4):317-25. PubMed ID: 15781192
    [Abstract] [Full Text] [Related]

  • 35. Towards metabolic sink therapy for mut methylmalonic acidaemia: retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.
    Chang CC, Hsiao KJ, Chen ML, Lin CM.
    J Inherit Metab Dis; 1999 Dec 01; 22(8):951-2. PubMed ID: 10604156
    [No Abstract] [Full Text] [Related]

  • 36. Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency.
    Almási T, Guey LT, Lukacs C, Csetneki K, Vokó Z, Zelei T.
    Orphanet J Rare Dis; 2019 Apr 25; 14(1):84. PubMed ID: 31023387
    [Abstract] [Full Text] [Related]

  • 37. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
    Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G.
    Pediatr Int; 2007 Apr 25; 49(2):232-4. PubMed ID: 17445044
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  • 38. Brain damage by mild metabolic derangements in methylmalonic acidemia.
    Lee NC, Chien YH, Peng SF, Huang AC, Liu TT, Wu AS, Chen LC, Hsu LW, Tseng SC, Hwu WL.
    Pediatr Neurol; 2008 Nov 25; 39(5):325-9. PubMed ID: 18940555
    [Abstract] [Full Text] [Related]

  • 39. Novel mutations in a Thai patient with methylmalonic acidemia.
    Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J.
    Mol Genet Metab; 2003 Aug 25; 79(4):300-2. PubMed ID: 12948746
    [Abstract] [Full Text] [Related]

  • 40. Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.
    Buck NE, Dashnow H, Pitt JJ, Wood LR, Peters HL.
    PLoS One; 2012 Aug 25; 7(9):e44974. PubMed ID: 23024777
    [Abstract] [Full Text] [Related]

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