Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to an inherited defect in the metabolic pathway of cholesterol. Early diagnosis of the disease is particularly important as patients benefit from therapy with chenodeoxycholic acid.
Although the disease is clinically characterized by the concomitant presence of tendon xanthomas, juvenile cataracts and progressive neurologica…
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Increases in lactate MR signals were found in the group of CTX patients
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