title: Coexistence of Gaucher disease type 1 and Joubert syndrome.
authors.forename: A
authors.initials: A
authors.lastname: van Royen-Kerkhof
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: O P
authors.initials: OP
authors.lastname: van Diggelen
authors.forename: J M
authors.initials: JM
authors.lastname: Aerts
authors.forename: J J
authors.initials: JJ
authors.lastname: Hopwood
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
mesh_terms: D002478:Cells, Cultured; D002526:Cerebellar Diseases / Q000150:complications* / Q000201:enzymology; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D005962:Glucosylceramidase / Q000172:deficiency; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome
chemical_list: D005962:Glucosylceramidase