title: Di- and trihydroxycholestanoic acidaemia with hepatic failure.
authors.affiliation: Department of Paediatrics, Eramus University Rotterdam/Sophia Children's Hospital, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Przyrembel
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: C W
authors.initials: CW
authors.lastname: van Roermund
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: G P
authors.initials: GP
authors.lastname: Mannaerts
authors.forename: M
authors.initials: M
authors.lastname: Casteels
mesh_terms: D020642:Acatalasia; D001647:Bile Acids and Salts / Q000097:blood; D002777:Cholestanols / Q000097:blood*; D002793:Cholic Acids / Q000097:blood*; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D007223:Infant; D008107:Liver Diseases / Q000378:metabolism*; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*
chemical_list: C000986:3,7-dihydroxycholestan-26-oic acid; D001647:Bile Acids and Salts; D002777:Cholestanols; D002793:Cholic Acids; D005227:Fatty Acids; C003681:3,7,12-trihydroxycoprostanic acid; D010088:Oxidoreductases; C028427:palmitoyl CoA oxidase; C066160:trihydroxycholestanoyl-CoA oxidase