Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients

por Wu, Shengnan, Shen, Linghua, Chen, Qiong, Gong, Chunxiu, Yang, Yanling, Wei, Haiyan, Cao, Bingyan, Chen, Yongxing
Publicado 2022

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

por Yu, Yue, Shuai, Ruixue, Liang, Lili, Qiu, Wenjuan, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Ye, Jun, Zhang, Huiwen, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Gu, Xuefan, Han, Lianshu
Publicado 2021

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

por Liang, Lili, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Shen, Linghua, Wu, Shengnan, Wei, Haiyan, Chen, Yongxing, Yang, Chiju, Xu, Peng, Chen, Xigui, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Ye, Jun, Zhang, Huiwen, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Publicado 2021