Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
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DOI: 10.1016/j.jlr.2021.100078
Abstract: Cerebrotendinous xanthomatosis (CTX) is caused by autosomal recessive loss-of-function mutations in CYP27A1, a gene encoding cytochrome p450 oxidase essential for bile acid synthesis, resulting in altered bile acid and lipid metabolism. Here, we aimed to… read more here.
Keywords: patients ctx; serum cerebrospinal; brain; cerebrotendinous xanthomatosis ... See more keywords