成年晚发型糖原贮积症Ⅱ型临床特征及基因突变分析
祖 娟*,钱方媛*,吴 迪,谢新欣,任庆国,张志珺
Clinical characteristics and genetic analysis of adult late-onset glycogen storage disease type II
ZU Juan*, QIAN Fang-yuan*, WU Di, XIE Xin-xin, REN Qing-guo, ZHANG Zhi-jun
上海交通大学学报(医学版) . 2020, (8): 1108 -1112 .  DOI: 10.3969/j.issn.1674-8115.2020.08.018