Results 81 to 90 of about 2,521 (182)

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

Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient

, 2020
Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage.
Dikbas, Oguz, Torun, Deniz, Eyuboglu, Ilker, Ilgezdi, Irem, Unlu, Burcu   +4 more
core   +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

Multitendon xanthomatosis in a normo-cholesterolemic patient [PDF]

, 2010
We present a rare case of multisite xanthomatosis occurring in a 38-year-old normocholesterolemic man without a familial history. More commonly, these conditions are associated with familial hypercholesterolemia and cerebrotendinous xanthomatosis. Tendon
Dagum, Alex, Gilet, Anthony, Gould, Elaine S.   +2 more
core   +1 more source

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

, 1998
Premature atherosclerosis and cardiac complications have been reported among the systemic manifestations of cerebrotendinous xanthomatosis (CTX), a rare bile acid disorder with predominantly neurological features. In some cases, myocardial infarction has
Dotti MT, DOTTI M. T., FEDERICO A., Agricola E, Mondillo S, MONDILLO S., AGRICOLA E., Plewnia K, PLEWNIA K.   +8 more
core   +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 presenting with bilateral Achilles tendon xanthomata.

, 2007
We report on a case of a 36-year-old lady who presented with large, painful soft-tissue swellings of both Achilles tendons. MRI demonstrated fusiform enlargement involving the Achilles tendons bilaterally.
Lamyman, MJ, McCarthy, CL, Cooke, PJ, Smithard, A, Gibbons, CL, Athanasou, N   +5 more
core   +1 more source