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...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2025-05-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/2602 |
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