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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2021-09-01
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| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/From-the-hypertransaminasemia-symptoms-to-the-recognition-of-late-onset-Pompe-disease-in-a-12-year-old-boy,127,45234,1,1.html |