Article
Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 1 Aug 2003
Straube R, Gäckler D, Thiele A, Muselmann L, Kingreen H, Klingel R
Abstract excerpt
Refsum's disease is a complex and difficult to diagnose storage disease caused by complex autosomal recessive peroxisomal disorder in which mutations of phytanolyl/pristanoyl-CoA-hydroxilase are the main cause. Poorly metabolised phytanic acid (PA), pristanic acid (PrA) and picolenic acid (PiA) a...
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