Results 31 to 40 of about 2,521 (182)

A case report on cerebrotendinous xanthomatosis [PDF]

, 2017
Cerebrotendinous xanthomatosis (CTX) is a rare hereditary neuro-metabolic disease in which deposition of cholesterol and cholestanol occurs in various tissues including CNS.
John, Mareena, Babu, Abino Mariya, Nair, Raj, Rajendran, Shyju, David, Emill Jame   +4 more
core   +1 more source

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene [PDF]

, 2018
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas, cataracts and neurological injuries occurring before adolescence without elevation of the serum ...
Ai Haraguchi, Hajime Takei, Kawakami, Atsushi, Kurosawa, Takao, Akari Sasamura, Haraguchi, Ai, Norio Abiru, Nittono, Hiroshi, Naruse, Hiromu, Alan T. Remaley, Nakayama, Tomohiro, Takei, Hajime, Takao Kurosawa, Ando, Takao, Une, Mizuho, Takao Ando, Tsuyoshi Murai, Hiromu Naruse, Remaley, Alan T., Satoru Akazawa, Hiroshi Nittono, Abiru, Norio, Sasamura, Akari, Kotani, Kazuhiko, Tomohiro Nakayama, Akazawa, Satoru, Atsushi Kawakami, Horie, Ichiro, Kazuhiko Kotani, Murai, Tsuyoshi, Ichiro Horie, Mizuho Une   +31 more
core   +1 more source

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis

Frontiers in Pediatrics, 2020
Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons.
Irene Degrassi, Chiara Amoruso, Giuseppe Giordano, Marina Del Puppo, Andrea Mignarri, Maria Teresa Dotti, Mauro Naturale, Gabriella Nebbia   +7 more
doaj   +1 more source

High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: Clinical and neuroimaging findings

Archives of Medicine and Health Sciences, 2020
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of effective bile acid biosynthesis (adult lipid storage disorder with the underlying mutation in the CYP27 gene, which encodes sterol 27-hydroxylase, a key enzyme in the ...
S Sheetal, P Byju
doaj   +1 more source

Cerebrotendinous xanthomatosis

Current Opinion in Lipidology, 2013
Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a ...
openaire   +5 more sources

Pathophysiology of cerebrotendinous xanthomatosis

Rinsho Shinkeigaku, 2016
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene, which lead to deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in the accumulation of cholestanol in the serum and many affected lesions.
Shingo, Koyama, Takeo, Kato
openaire   +3 more sources

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

JIMD Reports, 2021
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
doaj   +1 more source

Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice

JPGN Reports, EarlyView.
Abstract Cerebrotendinous xanthomatosis (CTX) is a treatable genetic disorder associated with deficiency of the sterol 27‐hydroxylase enzyme (CYP27A1), important in bile acid synthesis. CTX may present in the newborn period as hepatic jaundice/cholestasis, that can resolve or can progress to fatal liver disease.
Andrea E. DeBarber, Maya Fowler, P. Barton Duell, Eric Dybbro   +3 more
wiley   +1 more source

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries

Indian Heart Journal, 2013
The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source