These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

169 related items for PubMed ID: 6121323

  • 21. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
    Jansen R, Ledley FD.
    Am J Hum Genet; 1990 Nov; 47(5):808-14. PubMed ID: 1977311
    [Abstract] [Full Text] [Related]

  • 22. 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]

  • 23. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
    Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.
    BMC Med Genet; 2007 Oct 15; 8():64. PubMed ID: 17937813
    [Abstract] [Full Text] [Related]

  • 24. 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 15; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 16(2):179. PubMed ID: 10923046
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 28.
    ; . PubMed ID:
    [No 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 28; 19(1):53-60. PubMed ID: 18052792
    [Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31. Assay of methylmalonyl CoA mutase with high-performance liquid chromatography.
    Kikuchi M, Hanamizu H, Narisawa K, Tada K.
    Clin Chim Acta; 1989 Oct 16; 184(3):307-13. PubMed ID: 2575466
    [Abstract] [Full Text] [Related]

  • 32. Methylmalonic acidaemia due to mutase apoenzyme defect: responsive to vitamin B12 in intact fibroblasts but not in vivo.
    Baumgartner R, Giardini O, Cantani A, Sabetta G, Castro M.
    J Inherit Metab Dis; 1982 Oct 16; 5(3):137-41. PubMed ID: 6133033
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency.
    Packman S, Mahoney MJ, Tanaka K, Hsia YE.
    J Pediatr; 1978 May 02; 92(5):769-71. PubMed ID: 25314
    [No Abstract] [Full Text] [Related]

  • 38. Biochemical analysis of intact fibroblasts from two cases with methylmalonic acidaemia.
    Kakinuma H, Ogura N, Ohtake A, Takayanagi M, Nakajima H, Kondo H, Terada H, Okuda K, Nomoto Y.
    J Inherit Metab Dis; 1985 May 02; 8(3):151-2. PubMed ID: 2879965
    [No Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.
    Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1975 Aug 02; 72(8):3181-5. PubMed ID: 1059104
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 9.