Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

Background and objective: Genetic cholestatic liver diseases are increasingly stratified using NGS. The resulting information can guide treatment with novel drugs such as IBAT inhibitors, which have demonstrated efficacy in congenital liver disorders including Alagille syndrome and PFIC. We hypothesised [for full text, please go to the a.m. URL]

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Publication Details

Journal
German Medical Science (German Research Foundation)
Published
2026-06-18
DOI
https://doi.org/10.3205/26vzmnrw124
Primary Topic
Pediatric Hepatobiliary Diseases and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

R. Liebe, M. Krawczyk, H H Schmidt, F. Lammert et al.
German Medical Science (German Research Foundation)
Pediatric Hepatobiliary Diseases and Treatments
article

Heterozygous variants in NOTCH2 in a cohort of juvenile and adult patients with cholestatic liver disease: Disease modifiers or innocent bystanders?

R. Liebe, M. Krawczyk, H H Schmidt, F. Lammert, A. Stalke
article en

Abstract

Background and objective: Genetic cholestatic liver diseases are increasingly stratified using NGS. The resulting information can guide treatment with novel drugs such as IBAT inhibitors, which have demonstrated efficacy in congenital liver disorders including Alagille syndrome and PFIC. We hypothesised [for full text, please go to the a.m. URL]

German Medical Science (German Research Foundation)
Medizinische Hochschule Hannover (DE), University of Duisburg-Essen (DE)
Good health and well-being
Openalex Percentile: Top 5%
Pediatric Hepatobiliary Diseases and Treatments
DOIOpen Access PDFOpenAlex
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