Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
Jansen
G A
GA
University of Amsterdam, Department of Clinical Biochemistry, The Netherlands.
Mihalik
S J
SJ
Watkins
P A
PA
Moser
H W
HW
Jakobs
C
C
Heijmans
H S
HS
Wanders
R J
RJ
D018902:Chondrodysplasia Punctata, Rhizomelic / Q000201:enzymology*; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008099:Liver / Q000201:enzymology; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D018901:Peroxisomal Disorders / Q000201:enzymology*
D006899:Mixed Function Oxygenases; C102623:PHYH protein, human