Discover Community Create You

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

What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.

Current opinion in pediatrics - 1 Oct 2024

Pinon Michele, Kamath Binita M

Abstract excerpt

PURPOSE OF REVIEW: To highlight recent advances in pediatric cholestatic liver disease, including promising novel prognostic markers and new therapies. FINDINGS: Additional genetic variants associated with the progressive familial intrahepatic cholestasis (PFIC) phenotype and new genetic cholangiopathies, with an emerging role of ciliopathy genes, are increasingly being identified. Genotype severity predicts...

Read the complete abstract on PubMed

Topics

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

Share to Alagille Syndrome
Share to ATP Binding Cassette Transporter, Subfamily B, Member 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bile Acids and Salts

Share to Cholestasis, Intrahepatic

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Share to Prognosis

Source

Identifiers

PMID: 38957097
DOI: 10.1097/MOP.0000000000001380

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.PMID 38957097Read ↗

Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Semantic proximity Read ↗

Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art reviewSemantic proximity Read ↗

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsSemantic proximity Read ↗

Diagnostic yield and novel candidate genes by exome sequencing in 166 children with intrahepatic cholestasisSemantic proximity Read ↗

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the LiteratureSemantic proximity Read ↗

Neonatal Cholestasis: Exploring Genetic Causes and Clinical OutcomesSemantic proximity Read ↗

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Semantic proximity Read ↗

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

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.Semantic proximity Read ↗

Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani ChildrenSemantic proximity Read ↗

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.Semantic proximity Read ↗

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

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