Results 81 to 90 of about 2,313 (193)

Cerebrotendinous xanthomatosis [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2003
G, Castelnovo, L, Jomir, S, Bouly
openaire   +2 more sources

Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis [PDF]

, 2014
V. Varga, Mónika Katkó, János Harangi, István Balogh, István Kapás, László Madar, I. Serés, Mária Judit Molnár, György Paragh, Gábor G. Kovács, Mariann Harangi   +10 more
openalex   +1 more source

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

Genetics and Molecular Biology, 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 an accumulation of cholestanol ...
Susan V. Smalley, Yudith Preiss, José Suazo, Javier Andrés Vega, Isidora Angellotti, Carlos F. Lagos, Enzo Rivera, Karin Kleinsteuber, Javier Campion, J. Alfredo Martínez, Alberto Maiz, José Luis Santos   +11 more
doaj   +1 more source

Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid [PDF]

, 2021
Mahjabin Islam, Nigel Hoggard, Marios Hadjivassiliou   +2 more
openalex   +1 more source

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report [PDF]

, 2021
Mohamed Ahmed Ghassem, Aziza Mounach, Julien Djossou, Hamza Toufik, N. El Ouardi, L. Achemlal, Ahmed Bezza   +6 more
openalex   +1 more source

Cerebrotendinous xanthomatosis. [PDF]

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

Cerebrotendinous xanthomatosis: A case report

Asian Journal of Surgery, 2022
Zhiyong Xiao, Ling Li, Wen Liao, Zhanghua Li   +3 more
doaj   +1 more source

Cerebrotendinous xanthomatosis in adults: clinical case [PDF]

, 2015
О. Е. Троценко, N. KYSELCHUK, A. TSYMBRAK   +2 more
openalex   +1 more source

Cerebrotendinous xanthomatosis tremor successfully controlled post-ventral intermediate nucleus-deep brain stimulation: a case report [PDF]

, 2023
Alyson M. Rich, Ema V. Karakoleva, James McInerney, Elana Farace, Sol De Jesus   +4 more
openalex   +1 more source

Electrophysiological studies in cerebrotendinous xanthomatosis. [PDF]

, 1992
Yoshika Tokimura, M Kuriyama, Kimiyoshi Arimura, J Fujiyama, Mitsuhiro Osame   +4 more
openalex   +1 more source