Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

por Deng, Mei, Mao, Man, Guo, Li, Chen, Feng-Ping, Wen, Wang-Rong, Song, Yuan-Zong
Publicado 2016

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

Comparative analyses of fungicide sensitivity and SSR marker variations indicate a low risk of developing azoxystrobin resistance in Phytophthora infestans

por Qin, Chun-Fang, He, Meng-Han, Chen, Feng-Ping, Zhu, Wen, Yang, Li-Na, Wu, E-Jiao, Guo, Zheng-Liang, Shang, Li-Ping, Zhan, Jiasui
Publicado 2016

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

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

por Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Publicado 2013

Clinical characterization of NTCP deficiency in paediatric patients : A case‐control study based on SLC10A1 genotyping analysis

por Deng, Li‐Jing, Ouyang, Wen‐Xian, Liu, Rui, Deng, Mei, Qiu, Jian‐Wu, Yaqub, Muhammad‐Rauf, Raza, Muhammad‐Atif, Lin, Wei‐Xia, Guo, Li, Li, Hua, Chen, Feng‐Ping, Ouyang, Ying, Huang, Yu‐Ge, Huang, Yue‐Jun, Long, Xiao‐Ling, Huang, Xiao‐Ling, Li, Shuang‐Jie, Song, Yuan‐Zong
Publicado 2021

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