| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833850 | Molecular Genetics and Metabolism | 2011 | 6 Pages |
Abstract
⺠We explored the diagnostic utility of epidermal changes in distinguishing type 2 Gaucher disease. ⺠Electron microscopy was performed on skin from 25 patients with Gaucher disease. ⺠Only patients with type 2 Gaucher disease had distinct ultrastructural alterations. ⺠These epidermal changes provide an early tool to help identify type 2 Gaucher disease.
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Authors
Aegean Chan, Walter M. Holleran, Tajh Ferguson, Debra Crumrine, Ozlem Goker-Alpan, Raphael Schiffmann, Nahid Tayebi, Edward I. Ginns, Peter M. Elias, Ellen Sidransky,