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...

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Detalles Bibliográficos
Autores principales: Mei, Shiyue, Ma, Chao, Cheng, Yibing, Qian, Suyun, Jin, Zhipeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331360/
https://www.ncbi.nlm.nih.gov/pubmed/32851303
http://dx.doi.org/10.1002/ped4.12135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7331360/
https://www.ncbi.nlm.nih.gov/pubmed/32851303
http://dx.doi.org/10.1002/ped4.12135

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