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Reduction of large soft-tissue Gaucheromas with substrate reduction therapy
Neha Mahajan1, Mikako Warren2, Shoji Yano3
1Department of Pediatrics, LAC+USC Medical Center, University of Southern California, Los Angeles, California.
Abstract:
Soft-tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction therapy introduced in addition to ERT, resulted in significant reduction of the large masses.
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