Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
Jansen
G A
GA
Wanders
R J
RJ
Watkins
P A
PA
Mihalik
S J
SJ
D006801:Humans; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D018901:Peroxisomal Disorders / Q000201:enzymology; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000201:enzymology* / Q000378:metabolism
D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human