Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme re...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Universidad Nacional de Colombia
2019-07-01
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| Series: | Case Reports |
| Subjects: | |
| Online Access: | https://revistas.unal.edu.co/index.php/care/article/view/76711 |
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