经生化诊断的IV型糖原贮积病。病例报告。
Glycogen storage disease type IV diagnosed biochemically. A case report.
作者信息
Friedman D J, Lane A B, Katz S, Jenkins T
出版信息
S Afr Med J. 1978 Aug 12;54(7):289-91.
PMID:280962
Abstract
A case report of a child with glycogen storage disease type IV is presented. The diagnosis was confirmed by enzyme assay on cultured fibroblasts. Some unusual features of this disorder are discussed and the possibility of antenatal diagnosis is emphasized.
摘要
本文报告一例IV型糖原贮积病患儿。通过对培养的成纤维细胞进行酶分析确诊。文中讨论了该疾病的一些不寻常特征，并强调了产前诊断的可能性。
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