Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
Jansen
G A
GA
University of Amsterdam, Dept. Pediatrics, The Netherlands.
Ferdinandusse
S
S
Hogenhout
E M
EM
Verhoeven
N M
NM
Jakobs
C
C
Wanders
R J
RJ
D003001:Cloning, Molecular; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008099:Liver / Q000201:enzymology*; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D016366:Open Reading Frames; D017354:Point Mutation; D011994:Recombinant Proteins / Q000378:metabolism; D012035:Refsum Disease / Q000201:enzymology* / Q000235:genetics*; D015183:Restriction Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion; D012867:Skin / Q000201:enzymology*
D011994:Recombinant Proteins; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human