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Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy
Author(s) -
Mahajan Neha,
Warren Mikako,
Yano Shoji
Publication year - 2020
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12188
Subject(s) - enzyme replacement therapy , substrate reduction therapy , glucocerebrosidase , reduction (mathematics) , soft tissue , medicine , disease , surgery , pathology , geometry , mathematics
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.