ReviewNature clinical practice. Gastroenterology & hepatology2008
Mechanisms of disease: Inborn errors of bile acid synthesis.
Review in Nature clinical practice. Gastroenterology & hepatology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.
- The clinical and biochemical effectiveness and safety of cholic acid treatment for bile acid synthesis defects: a systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.Journal of pediatric gastroenterology and nutrition · 2017Trial
- Acute portal vein thrombosis postimage-guided liver biopsy in common variable immunodeficiency.Radiology case reports · 2026Article
- Pediatric Cholestasis: A Practical Approach to Histological Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Gut microbiome and bile acid metabolism in liver disease: Mechanisms, clinical implications, and therapeutic opportunities.Pharmacological reviews · 2026Review
- Case Report: Primary bile acid synthesis defect: first cases series from Tunisia.Frontiers in pediatrics · 2026Article
- Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy.Orphanet journal of rare diseases · 2025Review
- Effectiveness and Safety of Personalized Cholic Acid Treatment in Patients With Bile Acid Synthesis Defects.Journal of inherited metabolic disease · 2025Article
- The Spatial Transcriptional Activity of Hepatic TCF7L2 Regulates Zonated Metabolic Pathways that Contribute to Liver Fibrosis.Nature communications · 2025Article
- Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis.Scientific reports · 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
- The changing metabolic landscape of bile acids - keys to metabolism and immune regulation.Nature reviews. Gastroenterology & hepatology · 2024Review
- The regulatory effects of bioactive polysaccharides on intestinal function and bile acids: chemical structures, bioactivities, and mechanisms.Frontiers in nutrition · 2024Review
- Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.Cureus · 2023Article
- Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review.Brain sciences · 2023Review
- Novel Therapeutic Approaches in Inherited Neuropathies: A Systematic Review.Pharmaceutics · 2023Review
- Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?Journal of clinical medicine · 2023Review
- Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.Molecular genetics and metabolism · 2023Review
- Product Validation and Stability Testing of Pharmacy Compounded Cholic Acid Capsules for Dutch Patients with Rare Bile Acid Synthesis Defects.Pharmaceutics · 2023Article
- Molecular characterization of chronic liver disease dynamics: From liver fibrosis to acute-on-chronic liver failure.JHEP reports : innovation in hepatology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Inborn errors of bile acid synthesis are rare genetic disorders that can present as neonatal cholestasis, neurologic disease or fat-soluble-vitamin deficiencies. There are nine known defects of bile acid synthesis, including oxysterol 7alpha-hydroxylase deficiency, Delta(4)-3-oxosteroid-5beta-reductase deficiency, 3beta-hydroxy-Delta(5)-C(27)-steroid dehydrogenase deficiency, cerebrotendinous xanthomatosis (also known as sterol 27-hydroxylase deficiency), alpha-methylacyl-CoA racemase deficiency, and Zellweger syndrome (also known as cerebrohepatorenal syndrome). These diseases are characterized by a failure to produce normal bile acids and an accumulation of unusual bile acids and bile acid intermediaries. Individuals with inborn errors of bile acid synthesis generally present with the hallmark features of normal or low serum bile acid concentrations, normal gamma-glutamyl transpeptidase concentrations and the absence of pruritus. Failure to diagnose any of these conditions can result in liver failure or progressive chronic liver disease. If recognized early, many patients can have a remarkable clinical response to oral bile acid therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.