eScholarship
metadata only
Mutation Analysis and Disease Features at Presentation in a Multi‐Center Cohort of Children With Monogenic Cholestasis
OBJECTIVES: To advance our understanding of monogenic forms of intrahepatic cholestasis. METHODS: Analyses included participants with pathogenic biallelic mutations in adenosine triphosphate (ATP)-binding cassette subfamily B member 11 (ABCB11) (bile salt export pump; BSEP) or adenosine triphosphata
Conceptio Open Archive
Analyze & explore related research in Conceptio
Connect this record directly into your research workflow or AI agent. Explore citations across open repositories, query full text, and export structured proof bundles.
This document is indexed with metadata only: full text is not available in the archive for this record. Open the official source ↗
Related documents
- Comparison Bile Duct Brushings, Cholangioscopy-Directed Biopsies and Pediatric Forceps Biopsies in Biliary Strictures#866041
- Severe Vanishing Bile Duct Syndrome after Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric Patients#449011
- Types of genotypes in progressive familial intrahepatic cholestasis and liver transplantation: A meta-analysis of observational studies#248080
- Ultra-low-pass whole-genome sequencing of bile cfDNA in patients with biliary strictures.#457387
- The bile acid-gut microbiota-vitamin D axis: new insights into biliary atresia.#351521
Record · ID 1119888
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Retrieved via Conceptio: every document is proof-bundled with source, license, and retrieval metadata.
Bring this data into your agent: Connect via MCP or API · 20 free credits to start · no card required
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive
Read the Docs → · View CLI source on GitHub · Conceptio Open Knowledge Archive