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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Detalhes bibliográficos

Principais autores:	Shiyue Mei, Chao Ma, Yibing Cheng, Suyun Qian, Zhipeng Jin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-06-01
Colecção:	Pediatric Investigation
Assuntos:	6‐bisphosphatase deficiency FBP1 Fructose‐1 Hypoglycemia Mutation Status epilepticus
Acesso em linha:	https://doi.org/10.1002/ped4.12135
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