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Xantomatosis cerebrotendinosa sin xantomas tendíneos: caso clínico

Contreras, Juan P; Guajardo, Gonzalo; Martínez, Arturo; López, Ingeborg; Cea, Gabriel.
Rev. méd. Chile; 147 (5), 2019
Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at...
Ácido Quenodesoxicólico/uso terapéutico, Xantomatosis Cerebrotendinosa/diagnóstico por imagen, Xantomatosis Cerebrotendinosa/tratamiento farmacológico, Colestanotriol 26-Monooxigenasa/genética, Colestanol/sangre, Diagnóstico Precoz, Imagen por Resonancia Magnética, Vitamina D/uso terapéutico, Xantomatosis Cerebrotendinosa/genética
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