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[Gaucher's disease in childhood: presentation and treatment].

Authors :
Maaswinkel-Mooij PD
Kerstjens-Frederikse WS
de Koning J
Kok AJ
Poorthuis BJ
Source :
Tijdschrift voor kindergeneeskunde [Tijdschr Kindergeneeskd] 1992 Dec; Vol. 60 (6), pp. 231-5.
Publication Year :
1992

Abstract

M. Gaucher is a lysosomal storage disorder. Patients present with hepatosplenomegaly or with complaints of the bones. Clinically 3 subtypes can be distinguished; the 'adult' type I is most frequent found. On the basis of 10 case histories the presentation in childhood is reported. Only recently treatment with enzyme replacement therapy became available. The possibilities for the treatment of M. Gaucher are discussed.

Details

Language :
Dutch; Flemish
ISSN :
0376-7442
Volume :
60
Issue :
6
Database :
MEDLINE
Journal :
Tijdschrift voor kindergeneeskunde
Publication Type :
Academic Journal
Accession number :
1488736