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Journal Abstract Search


156 related items for PubMed ID: 3270866

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

  • 2. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
    Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M.
    J Med Genet; 1999 May; 36(5):412-4. PubMed ID: 10353789
    [Abstract] [Full Text] [Related]

  • 3. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
    Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.
    Hum Mutat; 1999 May; 14(4):275-82. PubMed ID: 10502773
    [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. 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
    [Abstract] [Full Text] [Related]

  • 6. Structure of the PCCA gene and distribution of mutations causing propionic acidemia.
    Campeau E, Desviat LR, Leclerc D, Wu X, Pérez B, Ugarte M, Gravel RA.
    Mol Genet Metab; 2001 May; 74(1-2):238-47. PubMed ID: 11592820
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. 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]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [Propionic acidemia].
    Ando T.
    Nihon Rinsho; 1978 May; Suppl():1364-5. PubMed ID: 691357
    [No Abstract] [Full Text] [Related]

  • 13. [The neonatal form of propionic acidemia].
    Figueras Aloy J, Ribes Rubio A, Vilaseca Busca MA, Lluch Mir M, Brines Godino P, Jiménez González R, Cruz Hernández M.
    An Esp Pediatr; 1988 Dec; 29(6):459-62. PubMed ID: 3245641
    [Abstract] [Full Text] [Related]

  • 14. Protein and essential amino acid requirements in a child with propionic acidemia.
    Queen PM, Fernhoff PM, Acosta PB.
    J Am Diet Assoc; 1981 Nov; 79(5):562-5. PubMed ID: 7288063
    [No Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
    Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M.
    Mol Genet Metab; 2001 Dec; 74(4):476-83. PubMed ID: 11749052
    [Abstract] [Full Text] [Related]

  • 17. Neurologic nonmetabolic presentation of propionic acidemia.
    Nyhan WL, Bay C, Beyer EW, Mazi M.
    Arch Neurol; 1999 Sep; 56(9):1143-7. PubMed ID: 10488817
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. 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
    [Abstract] [Full Text] [Related]


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