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Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
(Sociedad Médica de Santiago, 2009)
Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
(Lippincott Williams, 2012-04)
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis
(Sociedade Brasileira de Genética, 2015)
Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations
of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with ...
MR Spectroscopy Detects Lipid Peaks in Cerebrotendinous Xanthomatosis
(AMER SOC NEURORADIOLOGY, 2010)
CTX is a rare lipid-storage disease. Novel MRS findings from 3 patients, using a short TE, were the presence of lipid peaks at 0.9 and 1.3 ppm in the depth of the cerebellar hemisphere; this might represent an additional ...
Psychiatric Disorders Secondary to Neurometabolic Disorders
Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and ...