Xantomatosis cerebrotendinosa: aspectos fisiopatológicos, clínicos y genéticos
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, caused by genetic deficiency of the 27-hydroxylase enzyme (encoded by CYP27A1). It plays a key role in cholesterol metabolism, especially in bile acid synthesis and in the 25-hydroxylation of vitamin D3 in the liver. Its def...
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| Autores principales: | , , , |
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| Lenguaje: | Spanish / Castilian |
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Sociedad Médica de Santiago
2014
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| Acceso en línea: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500010 |
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