title: Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.
authors.affiliation: University of Amsterdam, Department of Clinical Biochemistry, The Netherlands.
authors.forename: G A
authors.initials: GA
authors.lastname: Jansen
authors.forename: S J
authors.initials: SJ
authors.lastname: Mihalik
authors.forename: P A
authors.initials: PA
authors.lastname: Watkins
authors.forename: H W
authors.initials: HW
authors.lastname: Moser
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: H S
authors.initials: HS
authors.lastname: Heijmans
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: 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*
chemical_list: D006899:Mixed Function Oxygenases; C102623:PHYH protein, human