Article

Rare Genetic Cerebrotendinous Xanthomatosis Cases (CTX) without Cholestanol Elevation but with Prominent Cholesterol-Rich Tendon Xanthomas.

2023-12-12

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like the central nervous system and tendons. Furthermore, cataracts, gallstones, diarrhea and premature atherosclerosis have been reported. Nonetheless, clinical develop...

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Literature Corpus work: 7452688b-cb59-5055-9f39-ba8a0bdc13ed
DOI: 10.20944/preprints202312.0749.v1

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