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Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.

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第一作者： Jixiang,Du

第一单位： Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China.;Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China.;Department of Rheumatology and Immunology, Cheeloo College of Medicine, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China.

作者： Jixiang,Du ^[1] ; Fuchen,Liu ^[2] ; Xihan,Liu ^[3] ; Dandan,Zhao ^[2] ; Dongdong,Wang ^[2] ; Hongsheng,Sun ^[4] ; Chuanzhu,Yan ^[5] ; Yuying,Zhao ^[6]

作者单位： Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China.;Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China.;Department of Rheumatology and Immunology, Cheeloo College of Medicine, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China. ^[1] Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China. ^[2] Key Laboratory of Experimental Teratology, Ministry of Education, School of Basic Medical Science, Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China. ^[3] Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, 250021, Shandong, China.;Department of Rheumatology and Immunology, Cheeloo College of Medicine, Shandong Provincial Hospital, Shandong University, Jinan, 250021, Shandong, China. ^[4] Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn.;Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao, 266000, Shandong, China. czyan@sdu.edu.cn.;Brain Science Research Institute, Shandong University, Jinan, 250012, Shandong, China. czyan@sdu.edu.cn. ^[5] Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Cheeloo College of Medicine, Qilu Hospital, Shandong University, West Wenhua Street No.107, Jinan, 250012, Shandong, China. zyy72@126.com. ^[6]

关键词 Lysosomal dysfunction MNGIE Nucleotide metabolism TYMP Thymidine phosphorylase