Case report
Open access
Sep 2026
Case Report: Primary bile acid synthesis defect: first cases series from Tunisia
Background Primary bile acid synthesis defects (BASD) are autosomal recessive disorders causing cholestatic liver disease and fat-soluble vitamin malabsorption. Despite being treatable with cholic acid (CA), BASD remain underdiagnosed, particularly in resource-limited settings. No data have been published from Tunisia....
M. Zribi, Safa Khatrouch, H. Boudabous et al.
· Frontiers in Pediatrics · 0 citations