Results 91 to 100 of about 4,294 (176)

Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study

Journal of Inherited Metabolic Disease
Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized ...
Q. Salardaine, Natalia Shor, Nicolas Villain, Frédérique Bozon, M. Amador, Clarisse Duchon, N. Mélé, Manuel Schiff, A. Brassier, Y. Nadjar   +9 more
semanticscholar   +1 more source

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

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]

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

Cerebrotendinous Xanthomatosis, a Treatable Disorder Often Missed: Case Series of Three Patients Confirmed by Genetic Testing

Neurology India
Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied clinical manifestations and age of onset and is often diagnosed late. We report three cases of CTX who presented at our center with clinical features of frequent
Arjimand Yaqoob, W. Dar, Adnan Raina, Zubair Khuja, Amit Chandra, Immia Bukhari, H. Ganie, Maqbool Wani, Ravouf Asimi   +8 more
semanticscholar   +1 more source

Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.

Journal of Clinical Lipidology
Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disease attributed to the mutation of the gene CYP27A1, resulting in sterol 27-hydroxylase deficiency characterized by deposition of cholestanol and cholesterol in several tissues, like ...
R. Alves, Valéria Sutti Nunes, Ney Carter do Carmo Borges Junior, E. R. Nakandakare, E. Quintão   +4 more
semanticscholar   +1 more source

Sleep profile in cerebrotendinous xanthomatosis patients: a pilot study

Arquivos de Neuro-Psiquiatria
Background: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid-storage disorder caused by variant in CYP27A1. The classical neurological phenotype presents with neuropsychiatric symptoms related to the brain, cerebellum, and/or ...
P. L. G. S. B. Lima, Liandra Rayanne de Sousa Barbosa, A. Moura, A. E. Camelo-filho, Pedro Helder de Oliveira Junior, Mariana Michiles Santos Ramos, Lívio Leite Barros, P. Braga-Neto, Manoel Alves Sobreira Neto, P. R. Nóbrega   +9 more
semanticscholar   +1 more source