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203 related items for PubMed ID: 2454298

  • 1. Peroxisomal functions in classical Refsum's disease: comparison with the infantile form of Refsum's disease.
    Wanders RJ, Heymans HS, Schutgens RB, Poll-Thé BT, Saudubray JM, Tager JM, Schrakamp G, van den Bosch H.
    J Neurol Sci; 1988 Apr; 84(2-3):147-55. PubMed ID: 2454298
    [Abstract] [Full Text] [Related]

  • 2. Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.
    Aubourg P, Kremser K, Roland MO, Rocchiccioli F, Singh I.
    Pediatr Res; 1993 Sep; 34(3):270-6. PubMed ID: 7510868
    [Abstract] [Full Text] [Related]

  • 3. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
    Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM.
    Hum Genet; 1989 Jan; 81(2):175-81. PubMed ID: 2463966
    [Abstract] [Full Text] [Related]

  • 4. Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction.
    Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW.
    J Inherit Metab Dis; 1986 Jan; 9(2):169-74. PubMed ID: 2427795
    [Abstract] [Full Text] [Related]

  • 5. Disorders related to the metabolism of phytanic acid.
    Stokke O, Skjeldal OH, Høie K.
    Scand J Clin Lab Invest Suppl; 1986 Jan; 184():3-10. PubMed ID: 2438746
    [Abstract] [Full Text] [Related]

  • 6. Peroxisomes in fibroblasts from skin of Refsum's disease patients.
    Beard ME, Sapirstein V, Kolodny EH, Holtzman E.
    J Histochem Cytochem; 1985 May; 33(5):480-4. PubMed ID: 2580885
    [Abstract] [Full Text] [Related]

  • 7. Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants.
    Poulos A, Singh H, Paton B, Sharp P, Derwas N.
    Clin Genet; 1986 May; 29(5):397-408. PubMed ID: 2427264
    [Abstract] [Full Text] [Related]

  • 8. Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation.
    Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H.
    J Neurol Sci; 1987 Jan; 77(1):87-96. PubMed ID: 2433405
    [Abstract] [Full Text] [Related]

  • 9. Infantile Refsum's disease: a peroxisomal storage disorder?
    Manson JI, Pollard AC, Poulos A, Carter RF.
    Clin Exp Neurol; 1985 Jan; 21():283-7. PubMed ID: 2436838
    [Abstract] [Full Text] [Related]

  • 10. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
    Poulos A, Sharp P, Whiting M.
    Clin Genet; 1984 Dec; 26(6):579-86. PubMed ID: 6209040
    [Abstract] [Full Text] [Related]

  • 11. [Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
    Schmitt K, Molzer B, Stöckler S, Tulzer G, Tulzer W.
    Wien Klin Wochenschr; 1993 Dec; 105(11):320-2. PubMed ID: 7687405
    [Abstract] [Full Text] [Related]

  • 12. Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders.
    Molzer B, Kainz-Korschinsky M, Sundt-Heller R, Bernheimer H.
    J Clin Chem Clin Biochem; 1989 May; 27(5):309-14. PubMed ID: 2474624
    [Abstract] [Full Text] [Related]

  • 13. Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase.
    Poulos A, Sharp P, Fellenberg AJ, Danks DM.
    Hum Genet; 1985 May; 70(2):172-7. PubMed ID: 2408988
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial oxidation of phytanic acid in human and monkey liver: implication that Refsum's disease is not a peroxisomal disorder.
    Watkins PA, Mihalik SJ.
    Biochem Biophys Res Commun; 1990 Mar 16; 167(2):580-6. PubMed ID: 1690986
    [Abstract] [Full Text] [Related]

  • 15. Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations.
    Skjeldal OH, Stokke O, Norseth J, Lie SO.
    Scand J Clin Lab Invest; 1986 May 16; 46(3):283-7. PubMed ID: 2424078
    [Abstract] [Full Text] [Related]

  • 16. Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.
    Schutgens RB, Wanders RJ, Nijenhuis A, van den Hoek CM, Heymans HS, Schrakamp G, Bleeker-Wagemakers EM, Delleman JW, Schram AW, Tager JM.
    Enzyme; 1987 May 16; 38(1-4):161-76. PubMed ID: 3440444
    [Abstract] [Full Text] [Related]

  • 17. Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
    Slawecki ML, Dodt G, Steinberg S, Moser AB, Moser HW, Gould SJ.
    J Cell Sci; 1995 May 16; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
    [Abstract] [Full Text] [Related]

  • 18. [Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].
    Molzer B, Stöckler S, Bernheimer H.
    Wien Klin Wochenschr; 1992 May 16; 104(21):665-70. PubMed ID: 1282286
    [Abstract] [Full Text] [Related]

  • 19. Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.
    Van Crugten JT, Paton B, Poulos A.
    J Inherit Metab Dis; 1986 May 16; 9(2):163-8. PubMed ID: 2427794
    [Abstract] [Full Text] [Related]

  • 20. Peroxisomal integral membrane proteins in livers of patients with Zellweger syndrome, infantile Refsum's disease and X-linked adrenoleukodystrophy.
    Small GM, Santos MJ, Imanaka T, Poulos A, Danks DM, Moser HW, Lazarow PB.
    J Inherit Metab Dis; 1988 May 16; 11(4):358-71. PubMed ID: 2468817
    [Abstract] [Full Text] [Related]

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