Glycogen Storage Disease Type Ib in the Compound Heterozygous State: Case Report
Background. Glycogen Storage Disease Type Ib (GSDIb) is an inherited autosomal recessive orphan disease associated with a deficiency of the glucose—6-phosphate translocase transport protein and leading to excessive accumulation of glycogen in the liver and other organs. GSDIb occurs in about 20% of...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2025-05-01
|
| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/2602 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!