Refsum's disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002247:Carbon Isotopes; D046508:Culture Techniques; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010084:Oxidation-Reduction; D012035:Refsum Disease / Q000235:genetics / Q000378:metabolism*
D002247:Carbon Isotopes; D005227:Fatty Acids