Article
Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.
Liver international : official journal of the International Association for the Study of the Liver - 1 Nov 2021
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
Abstract excerpt
Na+ -taurocholate cotransporting polypeptide deficiency (NTCPD) is a newly described disorder arising from biallelic mutations of the SLC10A1 gene. As a result of a lack of compelling evidence from case-control studies, its genotypic and phenotypic features remain open for in-depth investigation. This study aimed to explore the genotypic and clinical phenotypic characteristics of paediatric patients with NTCPD....
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