DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review

por Liu, Xingmiao, Zhang, Zhongbin, Li, Dong, Lei, Meifang, Li, Qing, Liu, Xiaojun, Zhang, Peiyuan
Publicado 2021

Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein

por Lei, Meifang, Cui, Yaqiong, Dong, Zhaoying, Zhi, Xiufang, Shu, Jianbo, Cai, Chunquan, Li, Dong
Publicado 2022

Correction: Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

por Wu, Jinying, Lei, Meifang, Wang, Xuetao, Liu, Nan, Xu, Xiaowei, Gu, Chunyu, Yu, Yuping, Liu, Wei
Publicado 2023

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report

por Wu, Jinying, Lei, Meifang, Wang, Xuetao, Liu, Nan, Xu, Xiaowei, Gu, Chunyu, Yu, Yuping, Liu, Wei
Publicado 2022

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

por Shu, Jianbo, Zhi, Xiufang, Chen, Jing, Lei, Meifang, Zheng, Jie, Sheng, Wenchao, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Publicado 2022

Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant

por Lei, Meifang, Wang, Ping, Li, Hong, Liu, Xiaojun, Shu, Jianbo, Zhang, Qianqian, Cai, Chunquan, Li, Dong, Zhang, Yuqin
Publicado 2022

Analysis of the genotype–phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review

por Liu, Xingmiao, Liu, Xinquan, Fan, Wenxuan, Zhang, Zhongbin, Zhang, Peiyuan, Liu, Xiaojun, Lei, Meifang, Li, Qing, Yu, Xiaoli, Li, Dong
Publicado 2022