ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed

Author:

Avena Antonella,Puggelli Sandro,Morris Michael,Cerny Andreas,Andrade Alfredo Repáraz,Pareti Emmanuela,Bihl Florian,Cassatella Daniele,Moix Isabelle,Merlo Elisabetta,Rougemont Anne-Laure,Majno-Hurst Pietro,Vergani Diego,Mieli-Vergani Giorgina,Terziroli Beretta-Piccoli Benedetta

Funder

Fondazione Ticino Olona

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology

Reference94 articles.

1. New Insights in genetic cholestasis: from molecular mechanisms to clinical implications;Sticova;Can J Gastroenterol Hepatol,2018

2. Variants in ABCB4 (MDR3) across the spectrum of cholestatic liver diseases in adults;Stättermayer;J Hepatol,2020

3. Role of bile acids and the biliary HCO3- umbrella in the pathogenesis of primary biliary cholangitis;van Niekerk;Clin Liver Dis,2018

4. Genetic determinants of cholangiopathies: Molecular and systems genetics;Reichert;Biochim Biophys Acta,2017

5. Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay;Benzimra;Insights Imaging,2013

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