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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
Many anatomic pathology laboratories no longer have electron microscopy facilities. A retrospective review of autopsies was… Expand
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2018
2018
Congenital defects of bile acid synthesis are rare disorders that cause progressive liver dysfunction. Prolonged neonatal… Expand
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2017
2017
Congenital bile acid synthesis defect type 2 (CBAS2) is an autosomal recessive disorder caused by biallelic mutations of AKR1D1… Expand
2015
2015
 
2012
2012
AIM To investigate the clinical presentations associated with bile acid synthesis defects and to describe identification of… Expand
Review
2012
Review
2012
The present review describes the transgenic mouse models that have been designed to evaluate the functions of the cytochrome… Expand
2010
2010
  • 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… Expand
2010
2010
The etiologies of cholestatic liver disease are various and complicated.Congenital bile acid synthesis defect(CBAS) is about 1%-2… Expand
Review
2010
Review
2010
Objectives: 3β-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase deficiency is a bile acid synthesis defect responsive to primary… Expand
2008
2008
  • F. Álvarez
  • Annales Nestlé (English ed.)
  • 2008
  • Corpus ID: 45474811
Few specific treatments for children with chronic cholestasis are available. Most therapy strategies relieve bile component… Expand
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