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Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid (Item No. 20250).1 Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome, a neurological disorder characterized by mutations in PEX genes which result in defects in peroxisome formation.2,3
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1. Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-
2. Plasma analysis of di-
3. Zellweger spectrum disorders: Clinical overview and management approach. Orphanet J. Rare Dis. 10, 151 (2015).