Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients

por Chen, Xiao-Yu, Song, Dan-Yu, Fan, Yan-Bin, Tan, Dan-Dan, Chang, Xing-Zhi, Xiao, Jiang-Xi, Toda, Tatsushi, Xiong, Hui
Publicado 2021

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder

por Wei, Cui-Jie, Liu, Yi-Dan, Yang, Yan-Ling, Wu, Yuan, Liu, Jie-Yu, Chang, Xing-Zhi, Hua, Ying, Liu, Yu-He, Xiong, Hui
Publicado 2023

Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case repor...

por Liao, Ying, Qi, Jian-Guang, Yan, Hui, Zhang, Qing-You, Ji, Tao-Yun, Chang, Xing-Zhi, Yang, Hai-Po, Jin, Hong-Fang, Du, Jun-Bao
Publicado 2021

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

por Wei, Cui-Jie, Chang, Xing-Zhi, Ge, Lin, Fu, Xiao-Na, Fan, Yan-Bin, Liu, Jie-Yu, Wang, Shuang, Li, Hai-Li, Yang, Yan-Ling, Xiong, Hui
Publicado 2020

Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy

por Chen, Xiao-Yu, Song, Dan-Yu, Jiang, Li, Tan, Dan-Dan, Liu, Yi-Dan, Liu, Jie-Yu, Chang, Xing-Zhi, Xing, Guo-Gang, Toda, Tatsushi, Xiong, Hui
Publicado 2021