Mitochondrial phosphoenolpyruvate carboxykinase deficiency.
作者信息
Leonard J V, Hyland K, Furukawa N, Clayton P T
机构信息
Department of Child Health, Institute of Child Health, London, UK.
出版信息
Eur J Pediatr. 1991 Jan;150(3):198-9. doi: 10.1007/BF01963566.
PMID:2044592
Abstract
The sibling of a patient in whom a diagnosis of phosphoenolpyruvate carboxykinase had been made developed a similar clinical illness with liver failure. However the activity of phosphoenolpyruvate carboxykinase in leucocytes and fibroblasts was normal. Phosphoenolpyruvate carboxykinase is not the primary defect in this family.
摘要
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