ReviewCanadian journal of gastroenterology & hepatology2018
New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Review in Canadian journal of gastroenterology & hepatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
What it found
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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.
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Who cites it
47 citing papers in PubMed, 91 citations in OpenAlex.
- Sexual dimorphism in the liver.Nature reviews. Gastroenterology & hepatology · 2026Review
- Interpreting rare missense variants in ABCB4 using ACMG recommended in silico tools, bespoke prediction algorithm Vasor and AlphaMissense.Scientific reports · 2026Article
- The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome.Orphanet journal of rare diseases · 2026Article
- Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Digestive diseases and sciences · 2026Review
- A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.Communications medicine · 2025Article
- Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report.World journal of hepatology · 2025Article
- Tolvaptan safety in autosomal-dominant polycystic kidney disease; a focus on idiosyncratic drug-induced liver injury liabilities.Toxicological sciences : an official journal of the Society of Toxicology · 2025Review
- Practical Considerations for Odevixibat Treatment in Patients with Progressive Familial Intrahepatic Cholestasis: A Single-Center Case Series.Journal of clinical medicine · 2024Article
- Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.Radiologie (Heidelberg, Germany) · 2024Article
- NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death.Orphanet journal of rare diseases · 2024Article
- Maternal and neonatal outcomes of intrahepatic cholestasis of pregnancy after in vitro fertilization.BMC pregnancy and childbirth · 2024Article
- A novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.SAGE open medical case reports · 2024Article
- Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.Hepatology communications · 2023Article
- Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.Sultan Qaboos University medical journal · 2023Article
- Liver stiffness in pregnant women with intrahepatic cholestasis of pregnancy: A case control study.World journal of hepatology · 2023Article
- [One case of benign recurrent intrahepatic cholestasis type 2].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2023Article
- Intrahepatic cholestasis of pregnancy after ovarian hyperstimulation syndrome with wild-type ABCB4 gene: a peculiar case and literature review.BMC women's health · 2023Review
- Imaging of pregnancy-related liver diseases.iLIVER · 2023Review
- Biallelic NovelMolecular syndromology · 2023Article
- Bile Acids: Physiological Activity and Perspectives of Using in Clinical and Laboratory Diagnostics.Molecules (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cholestasis is characterised by impaired bile secretion and accumulation of bile salts in the organism. Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids. Phenotypic manifestation is highly variable, ranging from progressive familial intrahepatic cholestasis (PFIC)-with onset in early infancy and progression to end-stage liver disease-to a milder intermittent mostly nonprogressive form known as benign recurrent intrahepatic cholestasis (BRIC). Cases have been reported of initially benign episodic cholestasis that subsequently transitions to a persistent progressive form of the disease. Therefore, BRIC and PFIC seem to represent two extremes of a continuous spectrum of phenotypes that comprise one disease. Thus far, five representatives of PFIC (named PFIC1-5) caused by pathogenic mutations present in both alleles of
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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.