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Journal Abstract Search

119 related items for PubMed ID: 481943

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  • 3. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.
    Genomics; 1994 Feb; 19(3):500-5. PubMed ID: 8188292
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  • 5. Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases.
    Wolf B.
    Biochem Genet; 1979 Aug; 17(7-8):709-13. PubMed ID: 540014
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  • 7. Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.
    McKeon C, Eanes RZ, Fall RR, Tasset DM, Wolf B.
    Clin Chim Acta; 1980 Feb 28; 101(2-3):217-33. PubMed ID: 6766827
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  • 12. Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
    Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.
    Hum Genet; 1997 Nov 28; 101(1):93-6. PubMed ID: 9385377
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  • 13. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
    Yorifuji T, Kawai M, Muroi J, Mamada M, Kurokawa K, Shigematsu Y, Hirano S, Sakura N, Yoshida I, Kuhara T, Endo F, Mitsubuchi H, Nakahata T.
    Hum Genet; 2002 Aug 28; 111(2):161-5. PubMed ID: 12189489
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  • 14. Neurologic nonmetabolic presentation of propionic acidemia.
    Nyhan WL, Bay C, Beyer EW, Mazi M.
    Arch Neurol; 1999 Sep 28; 56(9):1143-7. PubMed ID: 10488817
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  • 15. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
    Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.
    Mol Genet Metab; 2003 Jan 28; 78(1):59-67. PubMed ID: 12559849
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