title: Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.
authors.forename: M G
authors.initials: MG
authors.lastname: Bouwman
authors.forename: S M
authors.initials: SM
authors.lastname: Rombach
authors.forename: G E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: B J H M
authors.initials: BJ
authors.lastname: Poorthuis
authors.forename: R H Lekanne
authors.initials: RH
authors.lastname: Deprez
authors.forename: J M F G
authors.initials: JM
authors.lastname: Aerts
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
mesh_terms: D000293:Adolescent; D000328:Adult; D002544:Cerebral Infarction / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006017:Glycolipids / Q000097:blood; D006801:Humans; D008875:Middle Aged; D013107:Sphingolipids / Q000097:blood; D049951:X Chromosome Inactivation
chemical_list: D006017:Glycolipids; D013107:Sphingolipids; C063288:globotriaosyl lysosphingolipid