A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants by Shao, Yongxian, Li, Taolin, Jiang, Minyan, Xu, Jianan, Huang, Yonglan, Li, Xiuzhen, Zheng, Ruidan, Liu, Li

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Modified nusinersen intrathecal injection method: inclusion of a septal needle-free closed infusion connector by Zhang, Yani, Zheng, Kelu, Liang, Cuili, Zheng, Ruidan, Chen, Jinghui, Jiang, Minyan, Zhou, Zhizi, Zhao, Yuan, Rao, Min, Yang, Sida, Chen, Wenxiong, Liu, Li

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Measurement of free carnitine and acylcarnitines in plasma by HILIC-ESI-MS/MS without derivatization by Peng, Minzhi, Liu, Li, Jiang, Minyan, Liang, Cuili, Zhao, Xiaoyuan, Cai, Yanna, Sheng, Huiying, Ou, Zhiying, Luo, Hong

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Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY) by Li, Xiuzhen, Ting, Tzer Hwu, Sheng, Huiying, Liang, Cui Li, Shao, Yongxian, Jiang, Minyan, Xu, Aijing, Lin, Yunting, Liu, Li

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Glucose-6-Phosphate dehydrogenase deficiency associated hemolysis in a cohort of new onset type 1 diabetes children in Guangdong province, China by Xu, Aijing, Jiang, Minyan, Zhang, Wen, Lin, Yunting, Shao, Yongxian, Mei, Huifen, Cheng, Jing, Liang, Cuili, Li, Cuiling, Li, Xiuzhen, Liu, Li

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Presenilin-1, mutated in familial Alzheimer’s disease, maintains genome stability via a γ-secretase dependent way by Guo, Xihan, Jiang, Minyan, Dai, Xueqin, Shen, Jie, Wang, Xu

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Telomere length and micronuclei trajectories in APP/PS1 mouse model of Alzheimer's disease: Correlating with cognitive impairment and brain amyloidosis in a sexually dimorphic mann... by Guo, Xihan, Li, Jianfei, Qi, Yanmei, Chen, Juanlin, Jiang, Minyan, Zhu, Lina, Liu, Zetong, Wang, Han, Wang, Gongwu, Wang, Xu

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A ruptured giant mediastinal mature teratoma mimicking an encapsulated empyema by Zhang, Junjie, Zhu, Xiaobo, Jiang, Minyan, Lv, Yajun

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High-dose metformin induces a low-glucose dependent genotoxic stress by Lyu, Ting, Zhou, Hongyuan, Wang, Yihui, Jiang, Minyan, Tao, Qian, Chen, Juanlin, Guo, Yitong, Zhang, Qiuping, Wang, Xu, Guo, Xihan

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Sustained free chlorine-releasing polydimethylsiloxane/Ca(ClO) 2 materials with long-lasting disinfection efficacy by Su, Xiaofan, Lin, Yaqi, Hu, Xingyu, Tan, Xinzhi, Mai, Yao, Jiang, Minyan, Zhang, Ruitao, Huo, Fangjun, Liu, Lei, Tian, Weidong, Xie, Li

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Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants by Li, Taolin, Huang, Yonglan, Tao, Chunyan, Yin, Xi, Su, Xueying, Shao, Yongxian, Liang, Cuili, Jiang, Minyan, Cai, Yanna, Lin, Yunting, Zeng, Chunhua, Zhao, Xiaoyuan, Liu, Li, Zhang, Wen

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Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants by Zhang, Wen, Xie, Ting, Sheng, Huiying, Shao, Yongxian, Lin, Yunting, Jiang, Minyan, Xu, Aijing, Su, Xueying, Liu, Zongcai, Zhao, Xiaoyuan, Liu, Li, Huang, Yonglan

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A ruptured giant mediastinal mature teratoma mimicking an encapsulated empyema by Zhang, Junjie, Zhu, Xiaobo, Jiang, Minyan, Lv, Yajun

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Brain abnormalities in fucosidosis: transplantation or supportive therapy? by Jiang, Minyan, Liu, Sha, Jiang, Hua, Lin, Yunting, Shao, Yongxian, Hu, Hao, Zhao, Xiaoyuan, Liu, Hongsheng, Huang, Yonglan, Liu, Li

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Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review by Su, Xueying, Shao, Yongxian, Lin, Yunting, Zhao, Xiaoyuan, Zhang, Wen, Jiang, Minyan, Huang, Yonglan, Zeng, Chunhua, Liu, Li, Li, Xiuzhen

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Sustained free chlorine-releasing polydimethylsiloxane/Ca(ClO) materials with long-lasting disinfection efficacy by Su, Xiaofan, Lin, Yaqi, Hu, Xingyu, Tan, Xinzhi, Mai, Yao, Jiang, Minyan, Zhang, Ruitao, Huo, Fangjun, Liu, Lei, Tian, Weidong, Xie, Li

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Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis by Li, Duan, Lin, Yunting, Huang, Yonglan, Zhang, Wen, Jiang, Minyan, Li, Xiuzhen, Zhao, Xiaoyuan, Sheng, Huiying, Yin, Xi, Su, Xueying, Shao, Yongxian, Liu, Zongcai, Li, Dongzhi, Li, Fatao, Liao, Can, Liu, Li

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Numb regulates vesicular docking for homotypic fusion of early endosomes via membrane recruitment of Monlb by Ximing Shao Yi Liu Qian Yu Zhihao Ding Wenyu Qian Lei Zhang Jianchao Zhang Nan Jiang Linfei Gui Zhiheng Xu Yang Hong Yifan Ma Yanjie Wei Xiaoqing Liu Changan Jiang Minyan Zhu Hongchang Li Huashun Li

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Simultaneous determination of pimpinellin, isopimpinellin and phellopterin in rat plasma by a validated UPLC–MS/MS and its application to a pharmacokinetic study after administrati... by Liu, Zhigang, Jiang, Minyan, Lu, Xiumei, Qin, Feng, Song, Yang, Wen, Jing, Li, Famei

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Williams-Beuren Syndrome: A Case Confirmed by Array-CGH Method by Jiang, MinYan, Liu, Li

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