Cerebrotendinous xanthomatosis (CTX) is a treatable bile acid disorder caused by mutations of CYP27A1. The pathogenesis of neurological damage has not been completely explained. Oral chenodeoxycholic acid (CDCA) can lead to clinical stabilization, but in a subgroup of patients the disease progresses despite treatment. In the present study, we aimed at clarifying cholesterol metabolism abnormalities and their response to CDCA treatment, in order to identify reliable diagnostic and prognostic markers and understand if differences exist between stable patients and those with neurological progression.
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|Titolo:||Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis|
|Citazione:||Mignarri, A., Magni, A., Del Puppo, M., Gallus, G.N., Björkhem, I., Federico, A., et al. (2015). Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. JOURNAL OF INHERITED METABOLIC DISEASE.|
|Appare nelle tipologie:||1.1 Articolo in rivista|
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