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糖原累积病是比较少见的遗传性代谢病。过去均从临床、一般实验室检查或光镜检查方面加以诊断,误诊及漏诊很多。本例除用上述各项检查外,又做了腓肠肌活检及电镜超微结构观察。现简要报道如下:
Glycogen storage disease is a relatively rare hereditary metabolic disease. In the past are from clinical, general laboratory tests or light microscopy to diagnose, misdiagnosis and missed a lot. In addition to the above cases in addition to the above checks, but also did gastrocnemius muscle biopsy and electron microscopy observation. Now briefly reported as follows: