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2010•Biochemical and Biophysical Research CommunicationsRequires access

Cerebrotendinous xanthomatosis: An inborn error in bile acid synthesis with defined mutations but still a challenge

Ingemar Björkhem, Magnus Hansson

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Key concepts: Cerebrotendinous Xanthomatosis, Cholestanol, CYP27A1, Oxysterol, Bile acid, Cholesterol, Internal medicine, Sterol

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