Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency
Abstract Background Fructose-1,6-bisphosphatase (FBP1) deficiency is a rare inherited disease characterized by recurrent episodes of lactic acidosis and ketotic hypoglycemia. To date, no cases have been reported in the Egyptian population. This study aimed to elucidate the phenotypic and molecular s...
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| Główni autorzy: | , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMC
2025-12-01
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| Seria: | Italian Journal of Pediatrics |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1186/s13052-025-02146-w |
| Etykiety: |
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