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Journal Abstract Search

177 related items for PubMed ID: 6796762

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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]

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

  • 6. 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]

  • 7. 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]

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

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

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  • 11. 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 Apr; 7(3):139-40. PubMed ID: 6438400
    [No Abstract] [Full Text] [Related]

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  • 13. Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
    Harris DJ, Thompson RM, Wolf B, Yang BI.
    J Med Genet; 1981 Apr; 18(2):156-7. PubMed ID: 7241536
    [Abstract] [Full Text] [Related]

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

  • 16. 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]

  • 17. Treatment of a neonate with propionic acidaemia and severe hyperammonaemia by peritoneal dialysis.
    Robert MF, Schultz DJ, Wolf B, Cochran WD, Schwartz AL.
    Arch Dis Child; 1979 Dec 04; 54(12):962-5. PubMed ID: 533302
    [Abstract] [Full Text] [Related]

  • 18. 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 Dec 04; 17(6):661-3. PubMed ID: 7707688
    [No Abstract] [Full Text] [Related]

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  • 20. [Propionic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 04; 33(5):575-8. PubMed ID: 3270866
    [No Abstract] [Full Text] [Related]

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