Results 61 to 70 of about 265 (124)

Cerebrotendinous xanthomatosis [PDF]

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

Cerebrotendinous xanthomatosis [PDF]

Neurology, 2006
Ludger, Schöls, Thomas, Nägele, Rebecca, Schüle, Daniela, Berg   +3 more
openaire   +3 more sources

Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid

Journal of Lipid Research, 1987
Large quantities of C27 bile alcohols hydroxylated at C-25 are excreted in the bile and urine of patients with cerebrotendinous xanthomatosis, a lipid storage disease that results from defective bile acid synthesis.
A K Batta, G Salen, S Shefer, G S Tint, M Batta   +4 more
doaj   +1 more source

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis

Neurology International
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and ...
Jennifer Hanson, Penelope E. Bonnen
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +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: A case report

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

A Case of Familial Hypercholesterolemia and Cerebrotendinous Xanthomatosis With Multiple Giant Xanthomas

Annals of Internal Medicine: Clinical Cases
A 56-year-old woman was referred to our hospital for evaluation of multiple infectious giant xanthomas on her upper and lower limbs. She was initially diagnosed with heterozygous familial hypercholesterolemia with a proprotein convertase subtilisin/kexin
Tatsuya Maruhashi, Shogo Matsui, Shinji Kishimoto, Masato Kajikawa, Yukihito Higashi   +4 more
doaj   +1 more source

Cerebrotendinous xanthomatosis. [PDF]

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

An Ultra-Rare Disorder: Case Report on Cerebrotendinous Xanthomatosis

Reports
Background and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents
Mariya Levkova, Mari Hachmeriyan, Margarita Grudkova, Mihael Tsalta-Mladenov, Ara Kaprelyan   +4 more
doaj   +1 more source