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Journal Abstract Search

211 related items for PubMed ID: 3362779

  • 1. 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]

  • 2. 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 Feb; 13(3):345-8. PubMed ID: 2122098
    [No Abstract] [Full Text] [Related]

  • 3. Prenatal diagnosis of propionic acidemia.
    Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez-Pombo P, Ugarte M.
    Prenat Diagn; 2004 Dec 15; 24(12):962-4. PubMed ID: 15614906
    [Abstract] [Full Text] [Related]

  • 4. Prenatal diagnosis of propionic acidemia.
    Sweetman L, Weyler W, Shafai T, Young PE, Nyhan WL.
    JAMA; 1979 Sep 07; 242(10):1048-52. PubMed ID: 470045
    [Abstract] [Full Text] [Related]

  • 5. Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
    Barash V, Elpeleg O, Sheffer R, Mandel H, Wanders RJ.
    Prenat Diagn; 1988 Nov 07; 8(9):691. PubMed ID: 3211860
    [No Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.
    Chadefaux B, Rabier D, Bonnefont JP, Jakobs C, Dumez Y, Kamoun P.
    Prenat Diagn; 1989 Jun 07; 9(6):448. PubMed ID: 2762239
    [No 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 Jun 07; 2(3):65-9. PubMed ID: 6796762
    [Abstract] [Full Text] [Related]

  • 8. [Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy].
    Hsu WC, Lin SP, Huang FY, Wang PA, Hsiao KJ.
    Zhonghua Yi Xue Za Zhi (Taipei); 1990 Nov 07; 46(5):306-10. PubMed ID: 2178070
    [Abstract] [Full Text] [Related]

  • 9. The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
    Wolf B, Raetz H.
    Clin Chim Acta; 1983 May 09; 130(1):25-30. PubMed ID: 6851181
    [Abstract] [Full Text] [Related]

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  • 12. 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 09; 36(5):412-4. PubMed ID: 10353789
    [Abstract] [Full Text] [Related]

  • 13. Propionic acidemia: a clinical update.
    Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WL.
    J Pediatr; 1981 Dec 09; 99(6):835-46. PubMed ID: 7031206
    [No Abstract] [Full Text] [Related]

  • 14. First trimester diagnosis of methylmalonic aciduria.
    Fowler B, Giles L, Sardharwalla IB, Donnai P, Clayton JK.
    Prenat Diagn; 1988 Mar 09; 8(3):207-13. PubMed ID: 2897685
    [Abstract] [Full Text] [Related]

  • 15. Activity of biotin-dependent and GABA metabolizing enzymes in chorionic villus samples: potential for 1st trimester prenatal diagnosis.
    Sweetman FR, Gibson KM, Sweetman L, Nyhan WL, Chin H, Swartz W, Jones OW.
    Prenat Diagn; 1986 Mar 09; 6(3):187-94. PubMed ID: 3725738
    [Abstract] [Full Text] [Related]

  • 16. 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 Mar 09; 17(6):661-3. PubMed ID: 7707688
    [No Abstract] [Full Text] [Related]

  • 17. [Blood propionic acid with hyperammonemic coma].
    Stöckler S, Kastner U, Pokits B, Müller W, Roscher A.
    Klin Padiatr; 1987 Mar 09; 199(5):348-50. PubMed ID: 3682709
    [Abstract] [Full Text] [Related]

  • 18. Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria.
    Fensom AH, Benson PF, Chalmers RA, Tracey BM, Watson D, King GS, Pettit BR, Rodeck CH.
    J Inherit Metab Dis; 1984 Mar 09; 7 Suppl 2():127-8. PubMed ID: 6434864
    [No Abstract] [Full Text] [Related]

  • 19. Neurologic nonmetabolic presentation of propionic acidemia.
    Nyhan WL, Bay C, Beyer EW, Mazi M.
    Arch Neurol; 1999 Sep 09; 56(9):1143-7. PubMed ID: 10488817
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