| Literature DB >> 31705761 |
Neha Mahajan1, Mikako Warren2, Shoji Yano3.
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.Entities:
Keywords: Gaucher disease; Gaucheroma; enzyme replacement therapy (ERT); substrate reduction therapy (SRT)
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Year: 2019 PMID： 31705761 DOI： 10.1002/jimd.12188
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982