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Journal Abstract Search

123 related items for PubMed ID: 10399105

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. 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; 67(1):203-6. PubMed ID: 10820128
    [Abstract] [Full Text] [Related]

  • 3. [Propionic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):575-8. PubMed ID: 3270866
    [No Abstract] [Full Text] [Related]

  • 4. Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients.
    Pérez-Cerdá C, Rodríguez-Pombo P, Ugarte M.
    J Inherit Metab Dis; 1994 Apr; 17(6):661-3. PubMed ID: 7707688
    [No Abstract] [Full Text] [Related]

  • 5. 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 Apr; 13(3):349-51. PubMed ID: 2122099
    [No Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Propionic acidaemia presenting with pancytopaenia in infancy.
    Sweetman L, Nyhan WL, Cravens J, Zomer Y, Plunket DC.
    J Inherit Metab Dis; 1980 Nov; 2(3):65-9. PubMed ID: 6796762
    [Abstract] [Full Text] [Related]

  • 8. Early prenatal diagnosis of propionic acidaemia with simultaneous sampling of chorionic villus and amniotic fluid.
    Rolland MO, Divry P, Mandon G, Guibaud P, Mathieu M, Sournies G, Thoulon JM.
    J Inherit Metab Dis; 1990 Nov; 13(3):345-8. PubMed ID: 2122098
    [No Abstract] [Full Text] [Related]

  • 9. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.
    Tahara T, Kraus JP, Ohura T, Rosenberg LE, Fenton WA.
    J Inherit Metab Dis; 1993 Nov; 16(2):353-60. PubMed ID: 8411997
    [Abstract] [Full Text] [Related]

  • 10. Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients.
    Ohura T, Narisawa K, Tada K.
    J Inherit Metab Dis; 1993 Nov; 16(5):863-7. PubMed ID: 8295402
    [No Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia.
    Kott-Blumenkranz R, Pappas CT, Bensch KG.
    Hum Pathol; 1981 Dec; 12(12):1141-8. PubMed ID: 7333577
    [No Abstract] [Full Text] [Related]

  • 14. Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
    Campeau E, Dupuis L, Leclerc D, Gravel RA.
    Hum Mol Genet; 1999 Jan; 8(1):107-13. PubMed ID: 9887338
    [Abstract] [Full Text] [Related]

  • 15. [Propionic acidemia].
    Ohura T.
    Ryoikibetsu Shokogun Shirizu; 1998 Jan; (18 Pt 1):276-9. PubMed ID: 9590046
    [No Abstract] [Full Text] [Related]

  • 16. Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
    Loyer M, Leclerc D, Gravel RA.
    Hum Mol Genet; 1995 Jun; 4(6):1035-9. PubMed ID: 7655456
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. [Blood propionic acid with hyperammonemic coma].
    Stöckler S, Kastner U, Pokits B, Müller W, Roscher A.
    Klin Padiatr; 1987 Oct; 199(5):348-50. PubMed ID: 3682709
    [Abstract] [Full Text] [Related]

  • 20. Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
    Robert MF, Schultz DJ, Wolf B, Cochran WD, Schwartz AL.
    Arch Dis Child; 1979 Dec; 54(12):962-5. PubMed ID: 533302
    [Abstract] [Full Text] [Related]

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