Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases

Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma. As a new inborn error of bile acid metabolism, NTCP deficiency remains far from being well understood in...

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Bibliographic Details
Main Authors: Hui Lin, Jian-Wu Qiu, Yaqub-Muhammad Rauf, Gui-Zhi Lin, Rui Liu, Li-Jing Deng, Mei Deng, Yuan-Zong Song
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Genetics
Subjects:
cholestasis
citrin deficiency
sodium taurocholate cotransporting polypeptide deficiency
SLC25A13
SLC10A1
variant
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.01108/full

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