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Heliyon|October 25, 2022
A pilot study of newborn screening for Duchenne muscular dystrophy in GuangzhouXuefang Jia, Xiang Jiang, Yonglan Huang
International Journal of Molecular Sciences|September 14, 2024
Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse ModelSichi Liu, Ting Xie, Yonglan Huang
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|June 12, 2014
[Clinical and molecular characteristics of a child with juvenile Sandhoff disease]Yonglan Huang, Ting Xie, Jipeng Zheng, et al.
Metabolic Brain Disease|September 30, 2018
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosisYuyu Feng, Yonglan Huang, Xiaoyuan Zhao, et al.
BMC Pediatrics|May 13, 2022
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variantsYongxian Shao, Taolin Li, Minyan Jiang, et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences|October 27, 2021
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in GuangzhouChengfang Tang, Minyi Tan, Ting Xie, et al.
Orphanet Journal of Rare Diseases|April 5, 2019
Characteristics of Pompe disease in China: a report from the Pompe registryYuying Zhao, Zhaoxia Wang, Jiahong Lu, et al.
BMC Pediatrics|December 22, 2024
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/betaYuyu Feng, Yonglan Huang, Xiaoyuan Zhao, et al.
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