Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed.
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DOI: 10.5604/01.3001.0010.5290
Abstract: Sitosterolemia is an autosomal recessive metabolic disease caused by mutations in ABCG5 or ABCG8 genes which encode for the (ATP)-binding cassette (ABC) transporters that are responsible for the trafficking of xenosterols. Liver involvement is not… read more here.
Keywords: sitosterolemia; cirrhosis; disease; cryptogenic cirrhosis ... See more keywords