[Gaucher disease type 1--therapeutic results of enzyme substitution].
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.
Steensberg
J
J
H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik.
Nielsen
K G
KG
Brandt
N J
NJ
D000293:Adolescent; D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D011379:Prognosis
D005962:Glucosylceramidase
Mb. Gaucher type 1--behandlingsresultater ved enzymsubstitution.