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Ruixue Shuai
Ruixue Shuai
Shanghai Jiao Tong University
Internal medicine
Vitamin B12
Gastroenterology
Methylmalonic acidemia
Medicine
2
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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.
2021
Orphanet Journal of Rare Diseases
Lili Liang
Ruixue Shuai
Yue Yu
Wenjuan Qiu
Linghua Shen
Shengnan Wu
Haiyan Wei
Yongxing Chen
Chiju Yang
Peng Xu
Xigui Chen
Hui Zou
Jizhen Feng
Tingting Niu
Haili Hu
Jun Ye
Huiwen Zhang
Deyun Lu
Zhuwen Gong
Xia Zhan
Wenjun Ji
Yongguo Yu
Xuefan Gu
Lianshu Han
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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.
2021
Molecular Genetics & Genomic Medicine
Y. G. Yu
Ruixue Shuai
Lili Liang
Wenjuan Qiu
Linghua Shen
Shengnan Wu
Haiyan Wei
Yongxing Chen
Chiju Yang
Peng Xu
Xigui Chen
Hui Zou
Jizhen Feng
Tingting Niu
Haili Hu
Jun Ye
Huiwen Zhang
Deyun Lu
Zhuwen Gong
Xia Zhan
Wenjun Ji
Xuefan Gu
Lianshu Han
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