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Journal Abstract Search

149 related items for PubMed ID: 2122099

  • 1. 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; 13(3):349-51. PubMed ID: 2122099
    [No Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation.
    Bartlett K, Ng H, Dale G, Green A, Leonard JV.
    J Inherit Metab Dis; 1981 Jun; 4(4):183-9. PubMed ID: 6118468
    [No Abstract] [Full Text] [Related]

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

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

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

  • 8. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
    Bartlett K, Ng H, Leonard JV.
    Clin Chim Acta; 1980 Jan 15; 100(2):183-6. PubMed ID: 6766095
    [Abstract] [Full Text] [Related]

  • 9. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism.
    Barshop BA, Yoshida I, Ajami A, Sweetman L, Wolff JA, Sweetman FR, Prodanos C, Smith M, Nyhan WL.
    Pediatr Res; 1991 Jul 15; 30(1):15-22. PubMed ID: 1909779
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. L-carnitine therapy in propionicacidaemia.
    Roe CR, Bohan TP.
    Lancet; 1982 Jun 19; 1(8286):1411-2. PubMed ID: 6123699
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. [Propionic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 09; 33(5):575-8. PubMed ID: 3270866
    [No Abstract] [Full Text] [Related]

  • 14. [Biotin deficiency in the germ-free rat and propionic acidemia].
    Cherruau B, Sacquet E, Mangeot M, Demelier JF, Lemonnier A.
    Ann Nutr Metab; 1983 Apr 09; 27(1):48-56. PubMed ID: 6830142
    [Abstract] [Full Text] [Related]

  • 15. 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 09; 54(12):962-5. PubMed ID: 533302
    [Abstract] [Full Text] [Related]

  • 16. 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 Dec 09; 5(2):121-4. PubMed ID: 6820422
    [Abstract] [Full Text] [Related]

  • 17. 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 09; 5(2):67-8. PubMed ID: 6133032
    [No Abstract] [Full Text] [Related]

  • 18. The dietary challenge of propionicacidaemia in an Asian girl.
    Laing SC.
    Hum Nutr Appl Nutr; 1985 Aug 09; 39(4):273-6. PubMed ID: 3930435
    [Abstract] [Full Text] [Related]

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

  • 20. Biotin-responsive beta-methylcrotonylglycinuria.
    Gompertz D, Draffan GH, Watts JL, Hull D.
    Lancet; 1971 Jul 03; 2(7714):22-4. PubMed ID: 4103667
    [No Abstract] [Full Text] [Related]

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