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Pediatrics|November 19, 2024
Juvenile Parkinsonism Associated With Dihydropyrimidinase DeficiencyJiaqing Li, Sanqing Xu
Brain Sciences|October 28, 2023
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature ReviewJiaqing Li, Sanqing Xu
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban|December 7, 2007
The etiology and outcome analysis of neonatal burst suppression EEGLian Zhang, Yanxia Zhou, Sanqing Xu
International Journal of Molecular Sciences|February 13, 2026
A Translational Roadmap for Neurological Nonsense Mutation DisordersJiaqing Li, Zhenyun Zhu, Sanqing Xu
Brain & Development|December 25, 2022
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature reviewJiaqing Li, Yalan Zhou, Tangfeng Su, et al.
Seizure|January 23, 2024
ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic dietYi Xie, Tangfeng Su, Yan Liu, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|February 11, 2020
Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX geneTangfeng Su, Yu Yan, Shuang Xu, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|October 29, 2022
Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature reviewJunyi Fu, Liqing Chen, Tangfeng Su, et al.
Molecular Genetics & Genomic Medicine|January 31, 2022
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformationsTangfeng Su, Yu Yan, Qingqing Hu, et al.
Frontiers in Genetics|December 9, 2021
Clinical and Genetic Characteristics of Chinese Children With GLUT1 Deficiency Syndrome: Case Report and Literature ReviewQingqing Hu, Yuechi Shen, Tangfeng Su, et al.
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