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356 related items for PubMed ID: 17432548

  • 1. [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; 48(1):99-105. PubMed ID: 17432548
    [Abstract] [Full Text] [Related]

  • 2. 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; 20(5):406. PubMed ID: 12402345
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 5. Gene symbol: MUT. Disease: Methylmalonic aciduria.
    Chang H.
    Hum Genet; 2005 Jul; 117(2-3):299. PubMed ID: 16156030
    [No Abstract] [Full Text] [Related]

  • 6. 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 Jul; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 7. 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; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 8. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
    Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.
    Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 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 Jul; 44(1):35-9. PubMed ID: 9929975
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Apr; 9(1):1-6. PubMed ID: 8990001
    [Abstract] [Full Text] [Related]

  • 13. 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; 65(3):690-8. PubMed ID: 6101601
    [Abstract] [Full Text] [Related]

  • 14. 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; 87(3):219-25. PubMed ID: 16410054
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.
    Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N.
    Neurology; 2005 Sep 27; 65(6):931-3. PubMed ID: 16186538
    [Abstract] [Full Text] [Related]

  • 17. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.
    Biochem Genet; 2007 Jun 27; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 18. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 2002 Nov 26; 99(24):15554-9. PubMed ID: 12438653
    [Abstract] [Full Text] [Related]

  • 19. Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
    Drennan CL, Matthews RG, Rosenblatt DS, Ledley FD, Fenton WA, Ludwig ML.
    Proc Natl Acad Sci U S A; 1996 May 28; 93(11):5550-5. PubMed ID: 8643613
    [Abstract] [Full Text] [Related]

  • 20. [Prognosis of congenital methylmalonic aciduria. Correlations between tolerance to proteins, response to vitamin B12 and enzymatic defect (author's transl)].
    Saudubray JM, Charpentier C, Coude FX, Ogier H, Pham Dinh D, Bartlett K, Gompertz D.
    Arch Fr Pediatr; 1980 May 28; 37 Suppl 2():IX-XIV. PubMed ID: 6108749
    [Abstract] [Full Text] [Related]

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