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Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation
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 hypoglycemia...
Kaydedildi:
| Yayımlandı: | Pediatr Investig |
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| Asıl Yazarlar: | , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7331360/ https://ncbi.nlm.nih.gov/pubmed/32851303 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ped4.12135 |
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