Determinación y jerarquización de signos clínicos para diagnóstico temprano de xantomatosis cerebrotendinosa
Rev. méd. Chile; 146 (6), 2018
Background: Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene resulting in a decreased synthesis of bile acids. An early diagnosis and treatment would reduce the longterm complications observed in this disease. Aim: To identify and hierarchize...