Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Abstract Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highli...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Book |
| Published: |
BMC,
2024-03-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|