Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes

por Feng, Wei-xing, Zhuo, Xiu-wei, Liu, Zhi-mei, Li, Jiu-wei, Zhang, Wei-hua, Wu, Yun, Han, Tong-li, Fang, Fang
Publicado 2021

Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to PRF1 Mutation in Chinese Pediatric Patients

por Feng, Wei-xing, Yang, Xin-ying, Li, Jiu-wei, Gong, Shuai, Wu, Yun, Zhang, Wei-hua, Han, Tong-li, Zhuo, Xiu-wei, Ding, Chang-hong, Fang, Fang
Publicado 2020