title: [Gaucher disease type 1--therapeutic results of enzyme substitution].
abstract: Gaucher's disease is the most common inherited lysosomal storage disorder, displaying hepato-splenomegaly, thrombocytopenia, anaemia and bone pain as characteristic features. Substitution therapy with a modified enzyme alglucerase has revolutionized the treatment and prognosis of Gaucher's disease. The first Danish patients treated with alglucerase are reported.
authors.affiliation: H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik.
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: D000293:Adolescent; D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D011379:Prognosis
chemical_list: D005962:Glucosylceramidase
vernacular_title: Mb. Gaucher type 1--behandlingsresultater ved enzymsubstitution.