Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
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 surge...
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| Autores principales: | , , , , |
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| Lenguaje: | Spanish / Castilian |
| Publicado: |
Sociedad Médica de Santiago
2019
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| Acceso en línea: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000500658 |
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