[Refsum disease].
Morooka
Keiichi
K
First Department of Pediatrics, Toho University School of Medicine.
D003937:Diagnosis, Differential; D006801:Humans; D006899:Mixed Function Oxygenases / Q000172:deficiency / Q000235:genetics; D009154:Mutation; D020675:Peroxisomes / Q000201:enzymology; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000175:diagnosis / Q000178:diet therapy / Q000209:etiology
D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human