Bannayan G A, Dean W J, Howell R R
Am J Clin Pathol. 1976 Oct;66(4):702-9. doi: 10.1093/ajcp/66.4.702.
The case of a 14-month-old Latin American girl with the diagnosis of Type IV glycogen-storage disease is reported. The diagnosis was reached on the basis of the typical clinical manifestations, the light- and electron-microscopic findings, and the demonstration of absence of the branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glucosyl transferase in the liver and in the cultured skin fibroblasts.
报告了一名14个月大的拉丁美洲女孩被诊断为IV型糖原贮积病的病例。该诊断基于典型的临床表现、光镜和电镜检查结果，以及在肝脏和培养的皮肤成纤维细胞中证实缺乏分支酶α-1,4-葡聚糖：α-1,4-葡聚糖6-葡糖基转移酶。
