两年前，九个月大的果果出现了心肌梗阻、呼吸衰竭、下肢乏力等症状，被医生诊断为庞贝病(Pompe disease)，活不过一岁。 这一罕见病，又名酸性α-葡萄糖苷酶缺乏症。
基于14个网页-相关网页
Aberrant activities have been implicated in diseases such as diabetes and Pompe disease.
葡萄糖苷酶的活性异常可能与糖尿病、庞佩氏症等疾病有关。
My child was picked up by neonatal screening for Pompe disease because of low enzyme activity.
我的小孩因为接受庞贝氏症新生儿筛检，发现其酵素活性偏低。
We then developed a method of newborn screening for Pompe disease, and started a pilot screening program.
我们接著开发庞贝氏症新生儿筛检之方法，并且进行前导筛检作业。
应用推荐