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

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