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562 related items for PubMed ID: 1282286

  • 1. [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; 104(21):665-70. PubMed ID: 1282286
    [Abstract] [Full Text] [Related]

  • 2. [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; 105(11):320-2. PubMed ID: 7687405
    [Abstract] [Full Text] [Related]

  • 3. Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes.
    Poulos A, Sharp P, Johnson D.
    Neurology; 1989 Jan; 39(1):44-7. PubMed ID: 2462697
    [Abstract] [Full Text] [Related]

  • 4. Diagnosis of peroxisomal disorders with neurological involvement.
    Molzer B.
    Padiatr Padol; 1993 Jan; 28(1):43-8. PubMed ID: 8446428
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
    Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S, Moser HW.
    Ann Neurol; 1999 Jan; 45(1):100-10. PubMed ID: 9894883
    [Abstract] [Full Text] [Related]

  • 8. 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; 108 ( Pt 5)():1817-29. PubMed ID: 7544797
    [Abstract] [Full Text] [Related]

  • 9. 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]

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

  • 11. 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]

  • 12. 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 Jan; 38(1-4):161-76. PubMed ID: 3440444
    [Abstract] [Full Text] [Related]

  • 13. An improved method for quantification of very long chain fatty acids in plasma.
    Vallance H, Applegarth D.
    Clin Biochem; 1994 Jun; 27(3):183-6. PubMed ID: 7522996
    [Abstract] [Full Text] [Related]

  • 14. Complementation analysis of peroxisomal disorders and classical Refsum.
    Poll-The BT, Skjeldal OH, Stokke O, Demaugre F, Saudubray JM.
    Prog Clin Biol Res; 1990 Jun; 321():537-43. PubMed ID: 1691507
    [No Abstract] [Full Text] [Related]

  • 15. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.
    Poll-The BT, Saudubray JM, Ogier HA, Odièvre M, Scotto JM, Monnens L, Govaerts LC, Roels F, Cornelis A, Schutgens RB.
    Eur J Pediatr; 1987 Sep; 146(5):477-83. PubMed ID: 2445576
    [Abstract] [Full Text] [Related]

  • 16. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
    Moser AB, Rasmussen M, Naidu S, Watkins PA, McGuinness M, Hajra AK, Chen G, Raymond G, Liu A, Gordon D.
    J Pediatr; 1995 Jul; 127(1):13-22. PubMed ID: 7541833
    [Abstract] [Full Text] [Related]

  • 17. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.
    Takemoto Y, Suzuki Y, Horibe R, Shimozawa N, Wanders RJ, Kondo N.
    Brain Dev; 2003 Oct; 25(7):481-7. PubMed ID: 13129591
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Very long-chain fatty acids in peroxisomal disease.
    Poulos A, Beckman K, Johnson DW, Paton BC, Robinson BS, Sharp P, Usher S, Singh H.
    Adv Exp Med Biol; 1992 May; 318():331-40. PubMed ID: 1378993
    [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; 11(4):358-71. PubMed ID: 2468817
    [Abstract] [Full Text] [Related]

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