Benefit of 5 years of enzyme replacement therapy in advanced late onset Pompe. A case report of misdiagnosis for three decades with acute respiratory failure at presentation
We report on a 57 year old female patient who presented in acute respiratory failure with severe generalized weakness. She was previously misdiagnosed for over three decades as polymyositis. She was treated with enzyme replacement therapy (ERT) for over five years, after being diagnosed with late on...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-09-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426922000568 |