Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and tran...

por Zhang, Zhan-Hui, Lin, Wei-Xia, Zheng, Qi-Qi, Guo, Li, Song, Yuan-Zong
Publicado 2017

Molecular Epidemiology of Na(+)-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causa...

por Li, Hua, Chen, Rong, Lin, Gui-Zhi, Lin, Wei-Xia, Yaqub, Muhammad-Rauf, Song, Yuan-Zong
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

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirub...

por Qiu, Jian-Wu, Deng, Mei, Cheng, Ying, Atif, Raza-Muhammad, Lin, Wei-Xia, Guo, Li, Li, Hua, Song, Yuan-Zong
Publicado 2017

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

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