[先天性果糖1,6 - 二磷酸酶缺乏症。一例病例描述]
[Congenital fructose 1,6 diphosphatase deficiency. Description of a case].
作者信息
Lupetti L, Cortigiani L, Ughi C, Marchetti A, Ceccarelli M
出版信息
Minerva Pediatr. 1989 Apr;41(4):199-203.
PMID:2770645
Abstract
In describing one case of congenital fructose 1,6-diphosphatase deficiency the Authors review the several clinical conditions giving problems of differential diagnosis. For certain diagnosis they underline the importance of liver biopsy, to dose the deficient enzyme directly in the liver tissue.
摘要
在描述一例先天性果糖-1,6-二磷酸酶缺乏症时，作者回顾了几种在鉴别诊断方面存在问题的临床情况。为了做出确切诊断，他们强调了肝活检的重要性，以便直接在肝组织中测定缺乏的酶。
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