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  • Title: Inborn Errors of Bile Acid Metabolism.
    Author: Heubi JE, Setchell KDR, Bove KE.
    Journal: Clin Liver Dis; 2018 Nov; 22(4):671-687. PubMed ID: 30266156.
    Abstract:
    Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionization mass spectrometry or DNA testing. Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder with liver disease.
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