title: Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.
authors.affiliation: University of Amsterdam, Dept. Pediatrics, The Netherlands.
authors.forename: G A
authors.initials: GA
authors.lastname: Jansen
authors.forename: S
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: E M
authors.initials: EM
authors.lastname: Hogenhout
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: 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*
chemical_list: D011994:Recombinant Proteins; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human