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Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy

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Published in 2019 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12188

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… read more here.

Keywords: reduction; soft tissue; reduction therapy; substrate reduction ... See more keywords