泰-萨克斯病相关论文
目的观察并分析国人婴幼儿型神经节苷脂沉积症患儿眼部与神经系统临床表现以及两者的相关性。方法2018年11月至2021年1月在首都医......
Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Ba......
Background: Late-onset Tay-Sachs disease (LOTS) is an adult-onset, auto somal recessive, progressive variant of GM2 gang......