Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population

by Kejian Guo, Xuan Zhou, Xuan Zhou, Xigui Chen, Yili Wu, Yili Wu, Yili Wu, Chuanxin Liu, Chuanxin Liu, Qingsheng Kong, Qingsheng Kong
Published 2018-04-01

Developmental YAPdeltaC determines adult pathology in a model of spinocerebellar ataxia type 1

by Kyota Fujita, Ying Mao, Shigenori Uchida, Xigui Chen, Hiroki Shiwaku, Takuya Tamura, Hikaru Ito, Kei Watase, Hidenori Homma, Kazuhiko Tagawa, Marius Sudol, Hitoshi Okazawa
Published 2017-11-01

Targeting Tyro3 ameliorates a model of PGRN-mutant FTLD-TDP via tau-mediated synaptic pathology

by Kyota Fujita, Xigui Chen, Hidenori Homma, Kazuhiko Tagawa, Mutsuki Amano, Ayumu Saito, Seiya Imoto, Hiroyasu Akatsu, Yoshio Hashizume, Kozo Kaibuchi, Satoru Miyano, Hitoshi Okazawa
Published 2018-01-01

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry

by Yiming Lin, Yiming Lin, Chien-Hsing Lin, Xiaoshan Yin, Lin Zhu, Jianbin Yang, Yuyan Shen, Chiju Yang, Xigui Chen, Haili Hu, Qingqing Ma, Xueqin Shi, Yaping Shen, Zhenzhen Hu, Chenggang Huang, Xinwen Huang
Published 2019-12-01

Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations

by Falin He, Rulai Yang, Xinwen Huang, Yaping Tian, Xiaofang Pei, Mary Kathryn Bohn, Lin Zou, Yan Wang, Haibo Li, Ting Wang, Maosheng Gu, Tao Jiang, Xigui Chen, Hui Zou, Hongwei Wei, Weibing Tian, Tian Tang, Khosrow Adeli, Zhiguo Wang
Published 2021-12-01

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

by Yue Yu, Ruixue Shuai, Lili Liang, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Xuefan Gu, Lianshu Han
Published 2021-11-01

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

by Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han
Published 2021-01-01