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本文报道了8例北方6-磷酸葡萄糖脱氢酶缺乏症(小儿蚕豆病)及患儿和双亲G6PD,活性测定结果,探讨了其遗传特点、发病机制、新的实验室诊断技术及输血治疗等问题。
In this paper, we report the results of 8 cases of north glucose-6-phosphate dehydrogenase deficiency (FVHD) and G6PD in children and their parents, and discuss their genetic characteristics, pathogenesis, new laboratory diagnostic techniques and blood transfusion therapy problem.