From the hypertransaminasemia symptoms to the recognition of late-onset Pompe disease in a 12-year-old boy
The paper presents the case of a 12-year-old boy hospitalised due to persistent hypertransaminasemia of unknown origin, in whom rare metabolic disease - Pompe disease, was finally diagnosed. We discuss the possible symptoms and the diagnostic criteria for Pompe disease, as well as modern genetic met...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Termedia Publishing House,
2021-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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