BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 10518292)

  • 1. 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; 22(7):851-2. PubMed ID: 10518292
    [No Abstract]   [Full Text] [Related]  

  • 2. Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
    Rodriguez-Pombo P; Pérez-Cerdá C; Desviat LR; Pérez B; Ugarte M; Rodríguez-Pombo P
    Mol Genet Metab; 2002 Mar; 75(3):276-9. PubMed ID: 11914040
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 16(2):353-60. PubMed ID: 8411997
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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; 17(6):661-3. PubMed ID: 7707688
    [No Abstract]   [Full Text] [Related]  

  • 6. Biotin-dependent carboxylase deficiencies (propionyl-CoA and pyruvate carboxylases).
    Gravel RA; Robinson BH
    Ann N Y Acad Sci; 1985; 447():225-34. PubMed ID: 3925855
    [No Abstract]   [Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
    Chadefaux B; Augereau C; Rabier D; Rocchiccioli F; Boué J; Oury JF; Kamoun P
    Prenat Diagn; 1988 Feb; 8(2):161-4. PubMed ID: 3362779
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Identification of 3-hydroxy-3-ethylglutaric acid in urine of patients with propionic acidaemia.
    Kuhara T; Inoue Y; Shinka T; Matsumoto I; Matsuo M
    Biomed Mass Spectrom; 1983 Dec; 10(12):629-32. PubMed ID: 6200156
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
    Ohura T; Narisawa K; Tada K; Iinuma K
    Hum Genet; 1995 Jun; 95(6):707-8. PubMed ID: 7789958
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
    Pérez-Cerdá C; Merinero B; Martí M; Cabrera JC; Peña L; García MJ; Gangoiti J; Sanz P; Rodríguez-Pombo P; Hoenicka J; Richard E; Muro S; Ugarte M
    Eur J Pediatr; 1998 Jan; 157(1):50-2. PubMed ID: 9461363
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients.
    Ohura T; Miyabayashi S; Narisawa K; Tada K
    Hum Genet; 1991 May; 87(1):41-4. PubMed ID: 2037281
    [TBL] [Abstract][Full Text] [Related]  

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

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 11.