Articles with "synthesis disorder" as a keyword



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Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report

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Published in 2022 at "Journal of Medical Case Reports"

DOI: 10.1186/s13256-022-03365-z

Abstract: Congenital bile acid synthesis disorder type 3 caused by oxysterol 7α-hydroxylase deficiency is an extremely rare genetic liver disease. As it may cause rapid progression to end-stage liver disease, a high cautiousness in diagnosis and… read more here.

Keywords: disorder type; congenital bile; acid synthesis; bile acid ... See more keywords