Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.

doi:10.1111/liv.13714

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Article

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.

Liver international : official journal of the International Association for the Study of the Liver - 1 Sept 2018

Liu Teng, Wang Ren-Xue, Han Jun, Hao Chen-Zhi, Qiu Yi-Ling, Yan Yan-Yan, Li Li-Ting, Wang Neng-Li, Gong Jing-Yu, Lu Yi, Zhang Mei-Hong, Xie Xin-Bao, Yang Jun-Cong, You Yi-Jie, Li Jia-Qi, Knisely A S, Borchers Christoph H, Ling Victor, Wang Jian-She

Abstract excerpt

BACKGROUND & AIMS: Genetic defects causing dysfunction in bile salt export pump (BSEP/ABCB11) lead to liver diseases. ABCB11 mutations alter the bile acid metabolome. We asked whether profiling plasma bile acids could reveal compensatory mechanisms and track genetic and clinical status. METHODS: We compared plasma bile acids in 17 ABCB11-mutated patients, 35 healthy controls and 12 genetically undiagnosed...

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Identifiers

PMID: 29412511
DOI: 10.1111/liv.13714

Genes

ABCB11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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