Frederic Maxime Vaz on Muck Rack

Frederic Maxime Vaz

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Articles

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis

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By Soumia Majait, E. Marleen Kemper, Frederic Maxime Vaz, Samuel van Nierop
| MDPI
1. Introduction Cerebrotendinous xanthomatosis (CTX) is a genetic lipid storage disease caused by a mutation in the sterol 27-hydroxylase (CYP27A1) gene [1,2]. As CYP27A1 constitutes the rate-limiting enzyme of bile acid synthesis in the liver, this defect leads to reduced bile acid synthesis and accumulation of bile acid synthesis intermediates and their downstream metabolites including cholestanol.
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