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Bile Acid Synthesis Defect

A congenital or acquired defect in the bile acid biosynthesis, resulting in progressive liver disease.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Electron Microscopy Can Still Have a Role in the Diagnosis of Selected Inborn Errors of Metabolism
Many anatomic pathology laboratories no longer have electron microscopy facilities. A retrospective review of autopsies was… 
2018
2018
Bile Acid Synthesis Defect and Hyperinsulinism
Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. Prolonged neonatal… 
2017
2017
[Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene].
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1… 
2015
2015
Fat malabsorption due to bile acid synthesis defect.
Review
2012
Review
2012
Cytochrome P450s in the synthesis of cholesterol and bile acids – from mouse models to human diseases
The present review describes the transgenic mouse models that have been designed to evaluate the functions of the cytochrome… 
2012
2012
Differential diagnosis in patients with suspected bile acid synthesis defects.
AIM To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of… 
2010
2010
Reloading against rare liver diseases.
  • R. Sokol
  • Journal of pediatric gastroenterology and…
  • 2010
  • Corpus ID: 32720792
Much of pediatric gastroenterology and hepatology practice involves considering rare diseases in the differential diagnosis of… 
2010
2010
Congenital bile acid synthesis defect and cholestatic liver disease
The etiologies of cholestatic liver disease are various and complicated.Congenital bile acid synthesis defect(CBAS) is about 1%-2… 
Review
2010
Review
2010
Titration of Bile Acid Supplements in 3β-Hydroxy-Δ5-C27-Steroid Dehydrogenase/Isomerase Deficiency
Objectives: 3β-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency is a bile acid synthesis defect responsive to primary… 
2008
2008
Treatments in Chronic Cholestasis in Children
  • F. Alvarez
  • Annales Nestlé (English ed.)
  • 2008
  • Corpus ID: 45474811
Few specific treatments for children with chronic cholestasis are available. Most therapy strategies relieve bile component… 
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