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Keywords: Refsum disease
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Journal:
Clinical Science
Clin Sci (Lond) (2001) 101 (6): 697–705.
Published: 20 November 2001
...S.P. YOUNG; A.W. JOHNSON; D.P.R. MULLER Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter...