Results 91 to 100 of about 2,313 (193)

Aneurysmal Coronary Artery Disease in Cerebrotendinous Xanthomatosis

, 2023
Benjamin N. Potkin, Jeffrey M. Hoeg, William E. Connor, Gerald Salen, Arshed A. Quyyumi, John E. Brush, William C. Roberts, H. Bryan Brewer   +7 more
openalex   +1 more source

Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis [PDF]

, 2019
Miyuki Miyamoto, Nobuyuki Ishii, Hitoshi Mochizuki, Kazutaka Shiomi, Tomoko Kaida, Hideki Chuman, Masamitsu Nakazato   +6 more
openalex   +1 more source

Self-mutilation as a clinical manifestation of Cerebrotendinous Xanthomatosis

, 2021
Gustavo Carvalho Costa, Carolina Maria Marin, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Emília Correia Souto, Icaro França Navarro Pinto, Roberta Ismael Lacerda Machado, Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bullé Oliveira   +9 more
openalex   +1 more source

2837 A novel pathogenic mutation associated with cerebrotendinous xanthomatosis [PDF]

, 2023
Aaron Gaekwad, Matthew C. Kiernan, William Huynh   +2 more
openalex   +1 more source

Case Report and Current Literature Review of Adult Cerebrotendinous Xanthomatosis: Evaluation of Treatment Response Based on Gait Analysis Adult Cerebrotendinous Xanthomatosis

Haseki Tıp Bülteni
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme.
Eser Bulus, Sahin Avci, F. Feriha Ozer
doaj   +1 more source

Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study

, 1978
B. Dayal, Gerald Salen, G S Tint, V. Toome, Sarah Shefer, E.H. Mosbach   +5 more
openalex   +1 more source

An Unusual Case of Ankle Joint Swelling: A Young Girl with Cerebrotendinous Xanthomatosis

, 2023
Varsha Bhatt, Vattikuti Anusha, Shweta Suryakant Khopde, Abhishek A. Zanwar   +3 more
openalex   +1 more source

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity

Epilepsy & Behavior Reports
Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes.
Zachary Mills, James Thomas Houston, Ashley Thomas, Kelsey Shoenmeyer   +3 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: A multidisciplinary approach for early diagnosis

, 2021
Neha Kumari, Ashish Rustagi, Geetika Khanna, Dharmendra Kumar Singh   +3 more
openalex   +1 more source

ePoster

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source