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[期刊论文] 作者:Xiao-Yu Chen,Dan-Yu Song,Yan-Bin Fan,Dan-Dan Tan,Xing-Zhi Chang,Jiang-Xi Xiao,Tatsushi Toda,Hui Xiong, 来源:中华医学杂志:英文版 年份:2021
Alpha-dystroglycanopathy(α-DGP)is a subtype of congenital muscular dystrophies(CMDs)with autosomal recessive inheritance.Its main pathogenesis is the defect of post-translational O-glycosylation inα-dystroglycan(α-DG).α-DGP presents a w......
[期刊论文] 作者:Ying Liao,Jian-Guang Qi,Hui Yan,Qing-You Zhang,Tao-Yun Ji,Xing-Zhi Chang,Hai-Po Yang,Hong-Fang Jin,Jun-Bao, 来源:中华医学杂志:英文版 年份:2021
A 16-year-old male adolescent was hospitalized complaining of intermittent dizziness,drowsiness,and fatigue for approximately 2 years.The patient had an episode of fever and pharyngalgia lasting nearly 2 weeks and had undergone appendectomy......
[会议论文] 作者:Ye WU,Yu-Wu JIANG,Zhi-Jie GAO,Jing-Min WANG,Yun YUAN,Hui XIONG,Jiang-Xi XIAO,Xing-Zhi CHANG,Xi-Ru WU, 来源:中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the 年份:2007
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegerative disorder involving both central nervous system and peripheral axons.The clinical picture is characterized by psycho...
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