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...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Published: |
Termedia Publishing House,
2021-09-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |