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178 related items for PubMed ID: 7681251

  • 1. 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]

  • 2. 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 01; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 3. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb 01; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 4. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Feb 01; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 5. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
    Berger I, Shaag A, Anikster Y, Baumgartner ER, Bar-Meir M, Joseph A, Elpeleg ON.
    Mol Genet Metab; 2001 May 01; 73(1):107-10. PubMed ID: 11350191
    [Abstract] [Full Text] [Related]

  • 6. [Diagnosis and treatment of methylmalonic aciduria: a case report].
    Mahfoud A, Domínguez CL, Pérez A, Rizzo C, Merinero B, Pérez B.
    Invest Clin; 2007 Mar 01; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 7. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.
    Peters HL, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG, Ioannou PA.
    Hum Mutat; 2002 Nov 01; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 39(5):325-9. PubMed ID: 18940555
    [Abstract] [Full Text] [Related]

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  • 10. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.
    Mikami H, Ogasawara M, Matsubara Y, Kikuchi M, Miyabayashi S, Kure S, Narisawa K.
    J Hum Genet; 1999 Nov 01; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 11. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
    Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.
    Hum Mutat; 2000 Aug 01; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 01; 27(7):640-3. PubMed ID: 16752391
    [Abstract] [Full Text] [Related]

  • 14. [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 01; 26(5):485-9. PubMed ID: 19806564
    [Abstract] [Full Text] [Related]

  • 15. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
    Worgan LC, Niles K, Tirone JC, Hofmann A, Verner A, Sammak A, Kucic T, Lepage P, Rosenblatt DS.
    Hum Mutat; 2006 Jan 01; 27(1):31-43. PubMed ID: 16281286
    [Abstract] [Full Text] [Related]

  • 16. Benign methylmalonic aciduria.
    Ledley FD, Levy HL, Shih VE, Benjamin R, Mahoney MJ.
    N Engl J Med; 1984 Oct 18; 311(16):1015-8. PubMed ID: 6148691
    [Abstract] [Full Text] [Related]

  • 17. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression.
    Willard HF, Rosenberg LE.
    J Clin Invest; 1980 Mar 18; 65(3):690-8. PubMed ID: 6101601
    [Abstract] [Full Text] [Related]

  • 18. Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation.
    Roe CR, Struys E, Kok RM, Roe DS, Harris RA, Jakobs C.
    Mol Genet Metab; 1998 Sep 18; 65(1):35-43. PubMed ID: 9787093
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 79(4):300-2. PubMed ID: 12948746
    [Abstract] [Full Text] [Related]

  • 20. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.
    Han B, Nie W, Sun M, Liu Y, Cao Z.
    Pediatr Neonatol; 2020 Apr 18; 61(2):148-154. PubMed ID: 31466887
    [Abstract] [Full Text] [Related]

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