Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report
Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and met...
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| Автори: | , , , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2025-01-01
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| Серія: | BMC Medical Genomics |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s12920-024-02057-5 |
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