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Journal Abstract Search

158 related items for PubMed ID: 6174257

  • 1. Diagnosis of Refsum's disease using [1-14C]phytanic acid as substrate.
    Poulos A.
    Clin Genet; 1981 Oct; 20(4):247-53. PubMed ID: 6174257
    [Abstract] [Full Text] [Related]

  • 2. 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; 46(3):283-7. PubMed ID: 2424078
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Patterns of Refsum's disease. Phytanic acid oxidase deficiency.
    Poulos A, Pollard AC, Mitchell JD, Wise G, Mortimer G.
    Arch Dis Child; 1984 Mar; 59(3):222-9. PubMed ID: 6201142
    [Abstract] [Full Text] [Related]

  • 5. 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 Mar; 70(2):172-7. PubMed ID: 2408988
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. 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]

  • 9. Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid.
    Skjeldal OH, Stokke O.
    Scand J Clin Lab Invest; 1988 Feb; 48(1):97-102. PubMed ID: 2464193
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Neurological disorders and phytanic acid metabolism.
    Skjeldal OH, Nyberg-Hansen R, Stokke O.
    Acta Neurol Scand; 1988 Oct; 78(4):324-8. PubMed ID: 3223227
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases, including ultrastructural studies of the liver.
    Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler I, Beaune P.
    J Inherit Metab Dis; 1982 Mar 16; 5(2):83-90. PubMed ID: 6188882
    [Abstract] [Full Text] [Related]

  • 14. 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease.
    Greter J, Lindstedt S, Steen G.
    Clin Chem; 1983 Mar 16; 29(3):434-7. PubMed ID: 6186413
    [Abstract] [Full Text] [Related]

  • 15. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation.
    Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB.
    J Neurochem; 2002 Mar 16; 80(5):727-35. PubMed ID: 11948235
    [Abstract] [Full Text] [Related]

  • 16. The subcellular localization of phytanic acid oxidase in rat liver.
    Skjeldal OH, Stokke O.
    Biochim Biophys Acta; 1987 Sep 04; 921(1):38-42. PubMed ID: 3620488
    [Abstract] [Full Text] [Related]

  • 17. Refsum's disease and metabolism of phytanic acid.
    Stokke O, Refsum S.
    Lancet; 1982 Apr 17; 1(8277):906-7. PubMed ID: 6175864
    [No Abstract] [Full Text] [Related]

  • 18. Metabolism of phytanic acid in Refsum's disease.
    Billimoria JD, Clemens ME, Gibberd FB, Whitelaw MN.
    Lancet; 1982 Jan 23; 1(8265):194-6. PubMed ID: 6172683
    [No Abstract] [Full Text] [Related]

  • 19. Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
    Jansen GA, Wanders RJ, Watkins PA, Mihalik SJ.
    N Engl J Med; 1997 Jul 10; 337(2):133-4. PubMed ID: 9221344
    [No Abstract] [Full Text] [Related]

  • 20. Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease.
    Yao JK, Dyck PJ.
    Lipids; 1987 Feb 10; 22(2):69-75. PubMed ID: 2436023
    [Abstract] [Full Text] [Related]

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