Results 91 to 100 of about 2,521 (182)

Magnetic resonance imaging of cerebrotendinous xanthomatosis

, 1995
Cerebrotendinous xanthomatosis is a rare familial sterol storage disease with accumulation of cholestanol and cholesterol particularly in xanthomas, bite and brain. Magnetic resonance imaging is a useful modality for imaging the affected tissues.
Brockwell, J, Chan, FL, Tai, KS, Lam, KSL, Janus, ED   +4 more
core  

Cerebrotendinous xanthomatosis. [PDF]

BMJ, 1972
A S, Truswell, P J, Pfister
openaire   +4 more sources

Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing

, 1991
The authors report the clinical findings in 10 Italian cases of cerebrotendinous xanthomatosis (CTX). In addition to the classical neurological manifestations, the presence of psychiatric symptoms and osteopenia is stressed.
Federico A., Dotti M. T., Salen G.
core   +1 more source

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings

, 1994
PURPOSE: To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings.
Caputo, N., Federico, A., Filosomi, G., Guazzi, G. C., Dotti, M. T., Signorini, E., Venturi, C.   +6 more
core   +1 more source

Coronary heart disease in a patient with cerebrotendinous xanthomatosis

, 2004
Coronary heart disease is a prevalent condition and a leading cause of death in developed countries. Most cases are due to the cluster of classical risk factors, such as smoking, diabetes, high blood pressure and dyslipidaemia.
E. Herrera, GARUTI, Rita, P. Valdivielso, CALANDRA BUONAURA, Sebastiano, S. Calandra, R. Garuti, J. C. Duran, JC Duran, P. Gonzalez   +8 more
core   +1 more source

Screening for cerebrotendinous xanthomatosis [PDF]

Journal of Inherited Metabolic Disease, 2014
James J, Pitt, Heidi, Peters
openaire   +2 more sources

The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

, 2016
Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive disorder of lipid storage caused by mutations in the CYP27A1 gene, coding for a sterol 27-hydroxylase, leading to increased deposition of cholesterol in multiple tissues. CTX is characterized
MANDRIOLI, Jessica, Guaraldi, Pietro, Rosafio, Francesca, Cavallieri, Francesco, Taroni, Franco, NICHELLI, Paolo Frigio   +5 more
core   +1 more source

Quantification of brain damage in cerebrotendinous xanthomatosis with magnetization transfer MR imaging

, 2003
Conventional MR imaging for quantification of brain damage in monitoring the evolution of cerebrotendinous xanthomatosis (CTX) has limitations. Magnetization transfer (MT) MR imaging is overcoming these limitations.
Pagani, E, Comi, G, Federico, A, Dotti, Mt, Filippi, M., INGLESE, MARIA MATILDE, De Stefano, N   +6 more
core   +1 more source

Cerebrotendinous xanthomatosis: Imaging clues to an underdiagnosed disorder

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder resulting from defective bile acid synthesis, causing soft tissue deposition of cholesterol and cholestanol.
Mancy Mothsera, Ankita Garg, Jayesh Modi, Rajiv Gupta   +3 more
core   +1 more source

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. [PDF]

Neurogenetics
Ďurina P, Bandura A, Chandoga J, Juhosová M, Repiský M, Jungová P, Roháľová J, Jarásková D, Pohorelská V, Dallemule S, Mattošová S, Brennerová K, Okaľová K, Bohuniczky I, Böhmer D.   +14 more
europepmc   +1 more source