Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Cheng-Feng Zhao"'
Autor:
Xiru Wu, Li Ren, Yuehua Zhang, Xingzhi Chang, Ye Wu, J. Wang, Cheng-Feng Zhao, Yan-Hua Deng, Yu Sun, Yinyin Chen, Qionghui Huang, Yuwu Jiang, Binbin Cao, Xiaoping Yang, Jingmin Wang, Zhengping Niu, Jiangxi Xiao, Zhixian Yang, Hong Pan, Yanling Yang, Huixia Yang, Qiang Gu, Junya Chen
Publikováno v:
Metabolic brain disease. 32(4)
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1384d6254b366c0b0433060e42188bda
https://pubmed.ncbi.nlm.nih.gov/28397151
https://pubmed.ncbi.nlm.nih.gov/28397151
Autor:
Qiao, Wang, Yuan, Ding, Jing-Min, Wang, Qiong-Hui, Huang, Cheng-Feng, Zhao, Yu-Peng, Liu, Xi-Yuan, Li, Tong-Fei, Wu, Jin-Qing, Song, Yu-Jie, Wang, Yan-Ling, Yang
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 16(6)
Menkes disease is a rare X-linked recessive disorder characterized by multi-systemic disorder of copper deficiency caused by ATP7A gene mutation. In this study, the clinical and laboratory features of three patients with Menkes disease were analyzed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::343eeefa281c19c977c827622c11077c
https://pubmed.ncbi.nlm.nih.gov/24927440
https://pubmed.ncbi.nlm.nih.gov/24927440