title: Desmosterolosis: a new inborn error of cholesterol biosynthesis.
authors.forename: P
authors.initials: P
authors.lastname: Clayton
authors.forename: K
authors.initials: K
authors.lastname: Mills
authors.forename: J
authors.initials: J
authors.lastname: Keeling
authors.forename: D
authors.initials: D
authors.lastname: FitzPatrick
mesh_terms: D000015:Abnormalities, Multiple; D002784:Cholesterol / Q000096:biosynthesis*; D003897:Desmosterol / Q000032:analysis; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors; D013577:Syndrome; D014018:Tissue Distribution
chemical_list: D003897:Desmosterol; D002784:Cholesterol