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Journal Abstract Search

238 related items for PubMed ID: 1975493

  • 1. Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.
    Ledley FD.
    Bioessays; 1990 Jul; 12(7):335-40. PubMed ID: 1975493
    [Abstract] [Full Text] [Related]

  • 2. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Jul; 9(1):1-6. PubMed ID: 8990001
    [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; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 4. Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
    Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Apr; 87(8):3147-50. PubMed ID: 1970180
    [Abstract] [Full Text] [Related]

  • 5. 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 Apr; 44(1):35-9. PubMed ID: 9929975
    [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 Apr; 11(4):270-4. PubMed ID: 9554742
    [Abstract] [Full Text] [Related]

  • 7. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
    Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.
    Rev Invest Clin; 2012 Apr; 64(3):255-61. PubMed ID: 23045948
    [Abstract] [Full Text] [Related]

  • 8. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia.
    Ledley FD, Crane AM, Lumetta M.
    Am J Hum Genet; 1990 Mar; 46(3):539-47. PubMed ID: 1968706
    [Abstract] [Full Text] [Related]

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

  • 10. Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer.
    Sawada T, Ledley FD.
    Somat Cell Mol Genet; 1992 Nov 02; 18(6):507-16. PubMed ID: 1363156
    [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 02; 84(4):317-25. PubMed ID: 15781192
    [Abstract] [Full Text] [Related]

  • 12. 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 02; 45(5-6):421-30. PubMed ID: 17410422
    [Abstract] [Full Text] [Related]

  • 13. 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 02; 49(2):232-4. PubMed ID: 17445044
    [No Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 26; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 16. 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 26; 65(3):690-8. PubMed ID: 6101601
    [Abstract] [Full Text] [Related]

  • 17. A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
    Touraine RL, Rolland MO, Divry P, Mathieu M, Guibaud P, Bozon D.
    Hum Mutat; 1995 Mar 26; 5(4):354-6. PubMed ID: 7627195
    [No Abstract] [Full Text] [Related]

  • 18. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.
    Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP.
    BMC Med Genet; 2007 Apr 30; 8():24. PubMed ID: 17470278
    [Abstract] [Full Text] [Related]

  • 19. [A molecular study of methylmalonic aciduria: structure-function correlations].
    Rosenblatt DS, Ledley FD.
    Bull Acad Natl Med; 1996 Oct 30; 180(7):1553-63; discussion 1563-4. PubMed ID: 9102141
    [Abstract] [Full Text] [Related]

  • 20. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 30; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

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