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Q J Med 1992; 83: 541-546
© 1992 Association of Physicians

research-article

Successful Treatment of Bone Marrow Failure in Gaucher's Disease with Low-dose Modified Glucocerebrosidase

PK MISTRY, S DAVIES, A CORFIELD, AK DIXON* and TM COX

Departments of Medicine and Addenbrooke's Hospital Hills Road, Cambridge CB2 2QQ *Radiology, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital Hills Road, Cambridge CB2 2QQ

Accepted for publication 1 May 1992.

We report the beneficial effects of enzyme replacement therapy with mannose-terminated human glucocerebrosidase (‘Ceredase’) in a patient suffering from transfusion-dependent bone marrow failure due to Gaucher's disease. Treatment with low-dose enzyme infusions, given twice weekly, rapidly reversed the haematopoietic failure and incapacitating skeletal disease. It appears likely that prior splenectomy favourably influenced the response to this therapy.


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