Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes

Abstract Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations. This study aimed to characterize the clinical, biochemical, and genetic spectrum of NICCD and evaluate treatment outcomes. Methods...

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Bibliographic Details
Main Authors: Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Gastroenterology
Subjects:
Citrin deficiency
NICCD
SLC25A13
Metabolic cholestasis
Outcomes
Online Access:https://doi.org/10.1186/s12876-025-04008-5
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