ArticleFrontiers in pediatrics2024
Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Autosomal recessiveMolecular genetics and metabolism reports · 2026Article
- Development of biomaterials for bone tissue engineering based on bile acids.Journal of materials science. Materials in medicine · 2025Review
- The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report.Clinical medicine insights. Pediatrics · 2025Article
- Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.Molecular genetics and metabolism reports · 2024Article
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Authors and funding
10 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis of unknown cause. As only 10 patients have been identified in Japan, IEBAM presents diagnostic challenges due to the similarity of clinical symptoms with biliary atresia, thus necessitating precise differentiation to avoid unnecessary invasive procedures. Laboratory tests in IEBAM are characterized by normal
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