Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation
Abstract Introduction Fructose‐1,6‐bisphosphatase (FBPase) deficiency is a rare inherited disorder in gluconeogenesis, characterized by hypoglycemia, ketonuria, metabolic acidosis and convulsions. Case presentation We describe two brothers with FBPase deficiency. The proband developed s evere hypogl...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2019-06-01
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| Col·lecció: | Pediatric Investigation |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/ped4.12135 |
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