title: A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.
authors.affiliation: Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: J
authors.initials: J
authors.lastname: Van Eldere
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: H J
authors.initials: HJ
authors.lastname: Eyssen
mesh_terms: D001647:Bile Acids and Salts / Q000097:blood; D002675:Child, Preschool; D002777:Cholestanols / Q000097:blood*; D002793:Cholic Acids / Q000097:blood*; D005227:Fatty Acids / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008830:Microbodies / Q000201:enzymology*; D010088:Oxidoreductases / Q000172:deficiency*; D010831:Phytanic Acid / Q000097:blood
chemical_list: C000986:3,7-dihydroxycholestan-26-oic acid; D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D005227:Fatty Acids; D010831:Phytanic Acid; C003681:3,7,12-trihydroxycoprostanic acid; D010088:Oxidoreductases; C066160:trihydroxycholestanoyl-CoA oxidase