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Journal Abstract Search

163 related items for PubMed ID: 2122098

  • 1. 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; 13(3):345-8. PubMed ID: 2122098
    [No Abstract] [Full Text] [Related]

  • 2. 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]

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

  • 4. Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia.
    Van Hove JL, Chace DH, Kahler SG, Millington DS.
    J Inherit Metab Dis; 1993 Dec; 16(2):361-7. PubMed ID: 8411998
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Propionic acidaemia presenting with pancytopaenia in infancy.
    Sweetman L, Nyhan WL, Cravens J, Zomer Y, Plunket DC.
    J Inherit Metab Dis; 1980 Dec 15; 2(3):65-9. PubMed ID: 6796762
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 36(5):412-4. PubMed ID: 10353789
    [Abstract] [Full Text] [Related]

  • 8. 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 May 15; 7 Suppl 2():127-8. PubMed ID: 6434864
    [No Abstract] [Full Text] [Related]

  • 9. 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 15; 8(9):691. PubMed ID: 3211860
    [No Abstract] [Full Text] [Related]

  • 10. 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 15; 22(5):676-7. PubMed ID: 10399105
    [No Abstract] [Full Text] [Related]

  • 11. 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 Jun 15; 13(3):349-51. PubMed ID: 2122099
    [No Abstract] [Full Text] [Related]

  • 12. 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 15; 157(1):50-2. PubMed ID: 9461363
    [Abstract] [Full Text] [Related]

  • 13. Normal growth and development with unrestricted protein intake after severe infantile propionic acidaemia.
    Luder AS, Yannicelli S, Green CL.
    J Inherit Metab Dis; 1989 Jan 15; 12(3):307-11. PubMed ID: 2515371
    [Abstract] [Full Text] [Related]

  • 14. Successful first trimester diagnosis in a pregnancy at risk for propionic acidaemia.
    Pérez-Cerdá C, Merinero B, Sanz P, Jiménez A, García MJ, Urbón A, Díaz Recasens J, Ramos C, Ayuso C, Ugarte M.
    J Inherit Metab Dis; 1989 Jan 15; 12 Suppl 2():274-6. PubMed ID: 2512424
    [No Abstract] [Full Text] [Related]

  • 15. Antenatal diagnosis of propionic acidaemia by methylcitrate determination.
    Dhondt JL, Farriaux JP, Amedee Manesme O, Cartigny B, Sweetman L, Duran M.
    J Inherit Metab Dis; 1981 Jan 15; 4(2):49-50. PubMed ID: 6790842
    [No Abstract] [Full Text] [Related]

  • 16. Prenatal diagnosis of non-ketotic hyperglycinaemia.
    Toone JR, Applegarth DA, Levy HL.
    J Inherit Metab Dis; 1992 Jan 15; 15(5):713-9. PubMed ID: 1434509
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 12(12):1141-8. PubMed ID: 7333577
    [No Abstract] [Full Text] [Related]

  • 18. Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia.
    Coker M, Duran M, De Klerk JB, Kleijer WJ, Jakobs C, Huijmans JG.
    Prenat Diagn; 1996 Oct 15; 16(10):941-4. PubMed ID: 8938066
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 9(6):448. PubMed ID: 2762239
    [No Abstract] [Full Text] [Related]

  • 20. 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 Jun 15; 6(3):187-94. PubMed ID: 3725738
    [Abstract] [Full Text] [Related]

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