Pediatric cholestasis often results from mechanical obstruction of the biliary tract or dysfunction in the processes of forming and excreting bile. Various genetic defects with resulting molecular inaccuracies are increasingly being recognized, often with specific clinical characteristics. Identifying of the molecular abnormality can enable implementation of timely, appropriate treatment in some affected individuals and provide prognostic indicators for both families and care teams.
Keywords: Bile acids; Children; Genetic causes of cholestasis; Jaundice; Pediatric.
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