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  • Title: [Gaucher's disease in childhood: presentation and treatment].
    Author: Maaswinkel-Mooij PD, Kerstjens-Frederikse WS, de Koning J, Kok AJ, Poorthuis BJ.
    Journal: Tijdschr Kindergeneeskd; 1992 Dec; 60(6):231-5. PubMed ID: 1488736.
    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.
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