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Journal Abstract Search

135 related items for PubMed ID: 2515371

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

  • 2. 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]

  • 3. 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]

  • 4. The dietary challenge of propionicacidaemia in an Asian girl.
    Laing SC.
    Hum Nutr Appl Nutr; 1985 Aug; 39(4):273-6. PubMed ID: 3930435
    [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 Aug; 13(3):345-8. PubMed ID: 2122098
    [No Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. Neurologic outcome of propionic acidemia.
    Surtees RA, Matthews EE, Leonard JV.
    Pediatr Neurol; 1992 Dec; 8(5):333-7. PubMed ID: 1418175
    [Abstract] [Full Text] [Related]

  • 10. Liver transplantation in propionic acidaemia.
    Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y.
    Eur J Pediatr; 1999 Dec; 158 Suppl 2():S65-9. PubMed ID: 10603102
    [Abstract] [Full Text] [Related]

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

  • 12. [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]

  • 13. Cardiomyopathy in propionic acidaemia.
    Massoud AF, Leonard JV.
    Eur J Pediatr; 1993 May; 152(5):441-5. PubMed ID: 8319715
    [Abstract] [Full Text] [Related]

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

  • 15. 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]

  • 16. 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 19; 54(12):962-5. PubMed ID: 533302
    [Abstract] [Full Text] [Related]

  • 17. Optic nerve atrophy in propionic acidemia.
    Ianchulev T, Kolin T, Moseley K, Sadun A.
    Ophthalmology; 2003 Sep 19; 110(9):1850-4. PubMed ID: 13129889
    [Abstract] [Full Text] [Related]

  • 18. 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 19; 12(12):1141-8. PubMed ID: 7333577
    [No Abstract] [Full Text] [Related]

  • 19. Mutation analysis of the propionyl-CoA carboxylase alpha-subunit gene in four Japanese patients with propionic acidaemia.
    Ohura T, Narisawa K, Iinuma K.
    J Inherit Metab Dis; 1999 Oct 19; 22(7):851-2. PubMed ID: 10518292
    [No Abstract] [Full Text] [Related]

  • 20. Cardiomyopathy in propionic acidaemia.
    Collins J, Kelly D.
    Eur J Pediatr; 1994 Jan 19; 153(1):53. PubMed ID: 8313926
    [No Abstract] [Full Text] [Related]

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