Novel SPG4 Mutation in a Patient with Sporadic Hereditary Spastic Paraplegia and Elevated Cerebrospinal Fluid Protein

por She, Hongda, Zheng, Xin, Xiao, Yingxiu, Mastaglia, Frank, Akkari, Anthony, Wu, Jingshan
Publicado 2021

Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

por Chen, Wei, Zhang, Youqiao, Ni, Yifeng, Cai, Shaoyu, Zheng, Xin, Mastaglia, Frank L., Wu, Jingshan
Publicado 2019