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  • 标题:Bilateral femoral osteolytic lesions in a patient with type 3 Gaucher disease
  • 作者:Enock Teefe ; Jenny Kim ; Grisel Lopez
  • 期刊名称:Molecular Genetics and Metabolism Reports
  • 印刷版ISSN:2214-4269
  • 出版年度:2015
  • 卷号:5
  • 页码:107-109
  • DOI:10.1016/j.ymgmr.2015.10.008
  • 出版社:Elsevier B.V.
  • 摘要:

    Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 23 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era.

  • 关键词:Gaucher disease ; Enzyme replacement therapy ; Osteolytic lesions ; Glucocerebrosidase
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