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Journal Abstract Search

128 related items for PubMed ID: 7707688

  • 21. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
    DelValle JA, Merinero B, Jiménez A, García MJ, Ugarte M, Omeñaca F, Neustadt G, Quero J.
    J Inherit Metab Dis; 1982; 5(2):121-4. PubMed ID: 6820422
    [Abstract] [Full Text] [Related]

  • 22. Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
    Bergstrøm T, Greter J, Levin AH, Steen G, Tryding N, Wass U.
    Scand J Clin Lab Invest; 1981 Apr; 41(2):117-26. PubMed ID: 7313494
    [Abstract] [Full Text] [Related]

  • 23. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
    Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.
    Am J Hum Genet; 1998 Aug; 63(2):360-9. PubMed ID: 9683601
    [Abstract] [Full Text] [Related]

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

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

  • 26. 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]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. Pyroglutamic aciduria in propionyl CoA carboxylase deficiency.
    Morishita H, Nagaya S, Nakajima T, Kawase A, Ohya A, Sugiyama S, Kamiya K, Watanabe I, Togari H, Suzuki Y.
    J Inherit Metab Dis; 1984 Jan; 7(3):139-40. PubMed ID: 6438400
    [No Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
    Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M.
    Mol Genet Metab; 2009 Apr; 96(4):171-6. PubMed ID: 19157943
    [Abstract] [Full Text] [Related]

  • 31. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
    Kuhara T, Shinka T, Matsuo M, Matsumoto I.
    Clin Chim Acta; 1982 Aug 04; 123(1-2):101-9. PubMed ID: 7116632
    [Abstract] [Full Text] [Related]

  • 32. 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 04; 12(12):1141-8. PubMed ID: 7333577
    [No Abstract] [Full Text] [Related]

  • 33. [Propionic acidemia].
    Ohura T.
    Ryoikibetsu Shokogun Shirizu; 1998 Dec 04; (18 Pt 1):276-9. PubMed ID: 9590046
    [No Abstract] [Full Text] [Related]

  • 34. 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 Dec 04; 13(3):345-8. PubMed ID: 2122098
    [No Abstract] [Full Text] [Related]

  • 35. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.
    Narisawa K, Arai N, Igarashi Y, Satoh T, Tada K, Hirooka Y.
    J Inherit Metab Dis; 1982 Dec 04; 5(2):67-8. PubMed ID: 6133032
    [No Abstract] [Full Text] [Related]

  • 36. 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 Dec 04; 13(3):349-51. PubMed ID: 2122099
    [No Abstract] [Full Text] [Related]

  • 37. Prenatal diagnosis and family studies in a case of propionicacidaemia.
    Gompertz D, Goodey PA, Thom H, Russell G, Johnston AW, Mellor DH, MacLean MW, Ferguson-Smith ME, Ferguson-Smith MA.
    Clin Genet; 1975 Oct 04; 8(4):244-50. PubMed ID: 1183068
    [Abstract] [Full Text] [Related]

  • 38. 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 04; 36(5):412-4. PubMed ID: 10353789
    [Abstract] [Full Text] [Related]

  • 39. 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 04; 95(6):707-8. PubMed ID: 7789958
    [Abstract] [Full Text] [Related]

  • 40. Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
    Libert R, Van Hoof F, Thillaye M, Vincent MF, Nassogne MC, de Hoffmann E, Schanck A.
    Clin Chim Acta; 2000 May 04; 295(1-2):87-96. PubMed ID: 10767396
    [Abstract] [Full Text] [Related]

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