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Journal Abstract Search

150 related items for PubMed ID: 9590044

  • 21. Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
    Chang CC, Hsiao KJ, Lee YM, Lin CM.
    J Inherit Metab Dis; 1999 Oct; 22(7):773-87. PubMed ID: 10518277
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. 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; 79(4):300-2. PubMed ID: 12948746
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
    Nyhan WL, Gargus JJ, Boyle K, Selby R, Koch R.
    Eur J Pediatr; 2002 Jul 26; 161(7):377-9. PubMed ID: 12111189
    [Abstract] [Full Text] [Related]

  • 26. Inherited deficiencies of human methylmalonyl CaA mutase activity: reduced affinity of mutant apoenzyme for adenosylcobalamin.
    Willard HF, Rosenberg LE.
    Biochem Biophys Res Commun; 1977 Oct 10; 78(3):927-34. PubMed ID: 20894
    [No Abstract] [Full Text] [Related]

  • 27. Methylmalonic acidemia.
    Matsuda I, Terashima T, Yamamoto J, Akaboshi I, Shinozuka S, Hattori S, Nagata N, Oka Y.
    Eur J Pediatr; 1978 Jul 03; 128(3):181-6. PubMed ID: 27367
    [Abstract] [Full Text] [Related]

  • 28. 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 03; 90(3):284-90. PubMed ID: 17113806
    [Abstract] [Full Text] [Related]

  • 29. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia.
    Chandler RJ, Venditti CP.
    Hum Gene Ther; 2008 Jan 03; 19(1):53-60. PubMed ID: 18052792
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. 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
    [Abstract] [Full Text] [Related]

  • 32. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
    Ledley FD, Rosenblatt DS.
    Hum Mutat; 1997 Jan 15; 9(1):1-6. PubMed ID: 8990001
    [Abstract] [Full Text] [Related]

  • 33. The inherited methylmalonic acidemias.
    Rosenberg LE.
    Prog Clin Biol Res; 1982 Jan 15; 103 Pt B():187-209. PubMed ID: 6131428
    [No Abstract] [Full Text] [Related]

  • 34. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.
    Packman S, Mahoney MJ, Tanaka K, Hsia YE.
    J Pediatr; 1978 May 15; 92(5):769-71. PubMed ID: 25314
    [No Abstract] [Full Text] [Related]

  • 35. Successful pregnancy in severe methylmalonic acidaemia.
    Wasserstein MP, Gaddipati S, Snyderman SE, Eddleman K, Desnick RJ, Sansaricq C.
    J Inherit Metab Dis; 1999 Oct 15; 22(7):788-94. PubMed ID: 10518278
    [Abstract] [Full Text] [Related]

  • 36. 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 Oct 15; 7(9):e44974. PubMed ID: 23024777
    [Abstract] [Full Text] [Related]

  • 37.
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  • 38. [Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].
    Kopieczna-Grzebieniak E, Toborek M, Jakubowska D, Tarnawski R.
    Pediatr Pol; 1988 Feb 15; 63(2):129-36. PubMed ID: 2900490
    [No Abstract] [Full Text] [Related]

  • 39.
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  • 40. [The neonatal acute form of methylmalonic acidemia. Report of 2 clinical cases].
    Giardini O, Marzetti G, Lubrano R, Laurenti F, Martino F, Mannarino O, D'Eufemia P, Ruberto U.
    Minerva Pediatr; 1980 Sep 15; 32(17):1039-46. PubMed ID: 6109233
    [No Abstract] [Full Text] [Related]

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