title: [Enzyme substitution in Gauscher disease].
abstract: Gaucher's disease is the most frequent inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia, and bone pain as characteristic features. Substitution with the modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. Treatment in general and current trends in enzyme substitution therapy in particular are discussed.
authors.affiliation: H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik 4062.
authors.forename: J
authors.initials: J
authors.lastname: Steensberg
authors.forename: K G
authors.initials: KG
authors.lastname: Nielsen
authors.forename: N J
authors.initials: NJ
authors.lastname: Brandt
mesh_terms: D005776:Gaucher Disease / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000473:pathology; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D011859:Radiography
chemical_list: D005962:Glucosylceramidase
vernacular_title: Enzymsubstitution ved mb. Gaucher.