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  • Title: Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes.
    Author: Poulos A, Sharp P, Johnson D.
    Journal: Neurology; 1989 Jan; 39(1):44-7. PubMed ID: 2462697.
    Abstract:
    The plasma of patients with inherited defects in peroxisomal biogenesis (ie, Zellweger's syndrome, infantile Refsum's disease, and neonatal adrenoleukodystrophy) shows evidence of a disturbance in the metabolism of saturated and monoenoic fatty acids with carbon chain lengths greater than 22 (VLCFA). Zellweger's syndrome plasma alone contains, in addition, increased amounts of a number of n-6 polyenoic VLCFA including 24:5, 26:5, 28:5, 30:5, and 30:6 fatty acids. These fatty acids facilitate the biochemical discrimination of Zellweger's syndrome from other related phenotypes.
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