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Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy

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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… Click to show full 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.

Keywords: reduction; soft tissue; reduction therapy; substrate reduction; reduction large; therapy

Journal Title: Journal of Inherited Metabolic Disease
Year Published: 2019

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