Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report

por Zeng, Han-Shi, Zhang, Zhan-Hui, Hu, Yan, Zheng, Gui-Lang, Wang, Jing, Zhang, Jing-Wen, Guo, Yu-Xiong
Publicado 2022

Clinical, Molecular and Functional Investigation on an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD)

por Zhang, Zhan-Hui, Lin, Wei-Xia, Deng, Mei, Zhao, Shu-Tao, Zeng, Han-Shi, Chen, Feng-Ping, Song, Yuan-Zong
Publicado 2014

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC2...

por ZENG, HAN-SHI, ZHAO, SHU-TAO, DENG, MEI, ZHANG, ZHAN-HUI, CAI, XIANG-RAN, CHEN, FENG-PING, SONG, YUAN-ZONG
Publicado 2014

Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Ci...

por Zheng, Qi-Qi, Zhang, Zhan-Hui, Zeng, Han-Shi, Lin, Wei-Xia, Yang, Heng-Wen, Yin, Zhi-Nan, Song, Yuan-Zong
Publicado 2016

A Polyhydroxyalkanoates-Based Carrier Platform of Bioactive Substances for Therapeutic Applications

por Zhang, Xu, Liu, Xin-Yi, Yang, Hao, Chen, Jiang-Nan, Lin, Ying, Han, Shuang-Yan, Cao, Qian, Zeng, Han-Shi, Ye, Jian-Wen
Publicado 2022

Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution

por Lin, Wei-Xia, Zeng, Han-Shi, Zhang, Zhan-Hui, Mao, Man, Zheng, Qi-Qi, Zhao, Shu-Tao, Cheng, Ying, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Publicado 2016

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China

por Lin, Wei-Xia, Yaqub, Muhammad Rauf, Zhang, Zhan-Hui, Mao, Man, Zeng, Han-Shi, Chen, Feng-Ping, Li, Wei-Ming, Cai, Wen-Zhe, Li, Ying-Qiang, Tan, Zhi-Yong, Sheng, Wei, Li, Zhi-Min, Tao, Xiao-Ling, Li, Yuan-Xia, Zhang, Jun-Ping, Han, Yao-Bin, Li, Yan, Duan, Wu-Qiong, Ye, Bao-Ni, Li, Ya-Rong, Song, Yuan-Zong
Publicado 2021