Article
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.
Molecular genetics & genomic medicine - 1 Nov 2021
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
Abstract excerpt
BACKGROUND: To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. METHODS: This was a retrospective study of patients diagnosed with mut-type MMA. All patients with mut-type MMA were tested for responsiveness to vitamin B12. RESULTS: There were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively,...
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