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720例甲基丙二酸血症MMACHC基因c.609G>A突变患者临床特征及随访分析 |
于玥( ),凌诗颖,帅瑞雪,邱文娟,张惠文,梁黎黎,季文君,刘宇超,顾学范,韩连书( ) |
上海交通大学医学院附属新华医院 上海市儿科医学研究所小儿内分泌遗传代谢科,上海 200092 |
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Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying MMACHC gene c.609G>A mutation |
YU Yue( ),LING Shiying,SHUAI Ruixue,QIU Wenjuan,ZHANG Huiwen,LIANG Lili,JI Wenjun,LIU Yuchao,GU Xuefan,HAN Lianshu( ) |
Department of Pediatric Endocrino-logy and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China |
引用本文:
于玥,凌诗颖,帅瑞雪,邱文娟,张惠文,梁黎黎,季文君,刘宇超,顾学范,韩连书. 720例甲基丙二酸血症MMACHC基因c.609G>A突变患者临床特征及随访分析[J]. 浙江大学学报(医学版), 2021, 50(4): 436-443.
YU Yue,LING Shiying,SHUAI Ruixue,QIU Wenjuan,ZHANG Huiwen,LIANG Lili,JI Wenjun,LIU Yuchao,GU Xuefan,HAN Lianshu. Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying MMACHC gene c.609G>A mutation. J Zhejiang Univ (Med Sci), 2021, 50(4): 436-443.
链接本文:
http://www.zjujournals.com/med/CN/10.3724/zdxbyxb-2021-0276
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http://www.zjujournals.com/med/CN/Y2021/V50/I4/436
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