title: [Gaucher's disease in a 22-year-old female patient].
abstract: Gaucher's disease is a sphingolipidosis with a genetically conditioned deficiency of cerebroside-beta-glucosidase which can be encountered in everyday practice and not only in paediatrics. The authors submit the case-history of a 22-year-old Ukrainian patient with a fully developed type 1 Gaucher disease, and a brief review of the diagnostic and therapeutic possibilities. Due to the more extensive migration of the population on the territory of the Czech Republic a more frequent occurrence of the disease can be envisaged.
authors.affiliation: Masarykův onkologický ústav, Brno.
authors.forename: A
authors.initials: A
authors.lastname: Gaja
authors.forename: N
authors.initials: N
authors.lastname: Hejlová
authors.forename: Z
authors.initials: Z
authors.lastname: Churý
authors.forename: H
authors.initials: H
authors.lastname: Franková
mesh_terms: D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans