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Article

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.

Annals of hepatology - 1 Jan 2000

Lipiński Patryk, Ciara Elżbieta, Jurkiewicz Dorota, Płoski Rafał, Wawrzynowicz-Syczewska Marta, Pawłowska Joanna, Jankowska Irena

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder caused by mutations in the ABCB4 gene. The aim of this study was to present the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients diagnosed in a one-referral centre. MATERIALS AND METHODS: The study included 4 patients with cholestasis and pathogenic...

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Identifiers

PMID: 33757843
DOI: 10.1016/j.aohep.2021.100342

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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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