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Publisher
Springer, Berlin, Heidelberg
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Authors: Peter T Clayton
Publish Date: 2012
Volume: , Issue: , Pages: 473-484
Abstract
Two inborn errors of metabolism affect the modifications of the cholesterol nucleus in both major pathways for bile acid synthesis 3βhydroxy∆5C27steroid dehydrogenase 3 βdehydrogenase deficiency and ∆43oxosteroid 5βreductase 5βreductase deficiency These disorders produce cholestatic liver disease and malabsorption of fat and fatsoluble vitamins Onset of symptoms is usually in the 1st year of life and if left untreated the liver disease can progress to cirrhosis and liver failure
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