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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

138 related items for PubMed ID: 540014

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  • 26. The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
    Wolf B, Raetz H.
    Clin Chim Acta; 1983 May 09; 130(1):25-30. PubMed ID: 6851181
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  • 27. High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.
    Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M.
    Am J Hum Genet; 2000 Jul 09; 67(1):203-6. PubMed ID: 10820128
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  • 28. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
    Campeau E, Dupuis L, León-Del-Rio A, Gravel R.
    Mol Genet Metab; 1999 May 09; 67(1):11-22. PubMed ID: 10329019
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  • 31. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
    Gravel RA, Lam KF, Scully KJ, Hsia Y.
    Am J Hum Genet; 1977 Jul 09; 29(4):378-88. PubMed ID: 195466
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  • 36. Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.
    Lam Hon Wah AM, Lam KF, Tsui F, Robinson B, Saunders ME, Gravel RA.
    Am J Hum Genet; 1983 Sep 09; 35(5):889-99. PubMed ID: 6614005
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  • 38. A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.
    Thompson GN, Bresson JL, Bonnefont JP, Walter JH, Read MA, Saudubray JM, Leonard JV, Halliday D.
    J Inherit Metab Dis; 1990 Sep 09; 13(3):349-51. PubMed ID: 2122099
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  • 39. Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency.
    Packman S, Caswell NM, Baker H.
    Biochem Genet; 1982 Feb 09; 20(1-2):17-28. PubMed ID: 6807281
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