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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Wiley,
2019-06-01T00:00:00Z.
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A1234.567 |
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