Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.

American journal of clinical pathology - 8 Mar 2025

Jiao Jingjing, Morotti Raffaella, Shafizadeh Nafis, Jain Dhanpat

Abstract excerpt

OBJECTIVES: Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders caused by defects in bile secretion or transport usually presenting as cholestasis in pediatric age. Herewith, we describe 3 PFIC cases with diagnostic challenges and highlight the role of genetic analysis. METHODS: The clinical history, laboratory data, liver biopsy, and molecular analysis for each case...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cholestasis, Intrahepatic

Share to Drug Transport and Resistance Mechanisms

Share to Exome Sequencing

Share to ABCB4 gene

Share to Mutation

Source

Identifiers

PMID: 39333837
DOI: 10.1093/ajcp/aqae123

Genes

ABCB4
MYO5B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.PMID 39333837Read ↗

Pathology of Progressive Familial Intrahepatic Cholestasis: An update.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasisSemantic proximity Read ↗

Newer variants of progressive familial intrahepatic cholestasisSemantic proximity Read ↗

Familial intrahepatic cholestasis - An uncommon cause of jaundice in young patients.Semantic proximity Read ↗

Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings.Semantic proximity Read ↗

A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.Semantic proximity Read ↗

Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver DiseaseSemantic proximity Read ↗

Molecular overview of progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

[Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].Semantic proximity Read ↗

The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.Semantic proximity Read ↗

Update on progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.