[Refsum disease].
Suzuki
Y
Y
Department of Pediatrics, Gifu University School of Medicine.
D003937:Diagnosis, Differential; D006801:Humans; D006899:Mixed Function Oxygenases / Q000172:deficiency; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000178:diet therapy / Q000209:etiology
D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human