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HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.
Sun, Yu; Wei, Xiujuan; Fang, Fang; Shen, Yiping; Wei, Haiyan; Li, Jiuwei; Ye, Xianglai; Zhan, Yongkun; Ye, Xiantao; Liu, Xiaomin; Yang, Wei; Li, Yuhua; Geng, Xiangju; Huang, Xuelin; Ruan, Yiyan; Qin, Zailong; Yi, Shang; Lyu, Jianxin; Fang, Hezhi; Yu, Yongguo.
Affiliation
  • Sun Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
  • Wei X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, China.
  • Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Shen Y; The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China; Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China; Boston Children's Hospital, Ha
  • Wei H; Department of Endocrinologic and Inherited Metabolic, Henan Childen's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
  • Li J; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Ye X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, China.
  • Zhan Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
  • Ye X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
  • Liu X; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
  • Yang W; Department of Endocrinologic and Inherited Metabolic, Henan Childen's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
  • Li Y; Department of Radiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.
  • Geng X; Department of Rehabilitation, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
  • Huang X; The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China.
  • Ruan Y; The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China.
  • Qin Z; The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China.
  • Yi S; The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China.
  • Lyu J; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, China; Zhejiang Provincial People's Hospital, Affiliated People's Hospital of Hangzhou Me
  • Fang H; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou 325035, China. Electronic address: fangh@wmu.edu.cn.
  • Yu Y; Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China. Electronic address: y
J Genet Genomics ; 48(8): 727-736, 2021 08 20.
Article in En | MEDLINE | ID: mdl-34334354
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases Type of study: Etiology_studies / Prognostic_studies Language: En Journal: J Genet Genomics Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases Type of study: Etiology_studies / Prognostic_studies Language: En Journal: J Genet Genomics Year: 2021 Document type: Article Affiliation country: Country of publication: