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Journal Abstract Search

128 related items for PubMed ID: 7707688

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  • 2. 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; 67(1):11-22. PubMed ID: 10329019
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  • 3. An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
    Ohura T, Narisawa K, Tada K, Iinuma K.
    J Inherit Metab Dis; 1999 Jun; 22(5):676-7. PubMed ID: 10399105
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  • 4. 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; 101(1):93-6. PubMed ID: 9385377
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  • 5. Mutations participating in interallelic complementation in propionic acidemia.
    Gravel RA, Akerman BR, Lamhonwah AM, Loyer M, Léon-del-Rio A, Italiano I.
    Am J Hum Genet; 1994 Jul; 55(1):51-8. PubMed ID: 8023851
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  • 6. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM, Troxel CE, Schuster S, Gravel RA.
    Genomics; 1990 Oct; 8(2):249-54. PubMed ID: 2249848
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  • 11. 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; 78(1):59-67. PubMed ID: 12559849
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  • 12. [Blood propionic acid with hyperammonemic coma].
    Stöckler S, Kastner U, Pokits B, Müller W, Roscher A.
    Klin Padiatr; 1987 Jan; 199(5):348-50. PubMed ID: 3682709
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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; 111(2):161-5. PubMed ID: 12189489
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  • 14. L-carnitine therapy in propionicacidaemia.
    Roe CR, Bohan TP.
    Lancet; 1982 Jun 19; 1(8286):1411-2. PubMed ID: 6123699
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  • 15. Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
    Rodríguez-Pombo P, Pérez-Cerdá C, Pérez B, Desviat LR, Sánchez-Pulido L, Ugarte M.
    Biochim Biophys Acta; 2005 Jun 10; 1740(3):489-98. PubMed ID: 15949719
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  • 16. Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia.
    Ohura T, Narisawa K, Iinuma K.
    J Inherit Metab Dis; 1999 Oct 10; 22(7):851-2. PubMed ID: 10518292
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