Description
每4万名新生儿中，就有一个“妈妈肩上的孩子”。他们生来全身松软、吸奶无力、哭声较小。随着肌肉慢慢萎缩，他们从没有力气、不会抬头、不能奔跑直至无法呼吸……这是一种罕见且足以致命的遗传性疾病“庞贝病”，2006年酶替代治疗面世，让一些患者得以长期存活。遗憾的是，传统ERT疗法需终身给药、无法穿透血脑屏障，且不同患者的疗效差异很大。但是如今，中国学者给这一致命罕见病提供了“中国方案”。
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