Results 21 to 30 of about 2,254 (206)

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

Orphanet Journal of Rare Diseases, 2022
Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in
Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari, Yann Nadjar   +10 more
doaj   +1 more source

Cerebrotendinous xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid [PDF]

, 2021
Background Cerebrotendinous xanthomatosis (CTX) is a rare but treatable neurometabolic disorder of lipid storage and bile acid synthesis. Whilst CTX is said to present with the classic triad of juvenile onset cataracts, tendon xanthomata and ...
Hadjivassiliou, M., Islam, M., Hoggard, N.   +2 more
core   +1 more source

Inverse relationship between plasma cholestanol concentrations and bile acid synthesis in sitosterolemia

Journal of Lipid Research, 1994
We investigated the relationship between plasma cholestanol (5 alpha-dihydrocholesterol) concentrations and the activity and mRNA levels of cholesterol 7 alpha-hydroxylase, the rate-controlling enzyme for bile acid synthesis, in three female ...
G Salen, A K Batta, G S Tint, S Shefer, G C Ness   +4 more
doaj   +1 more source

Validation of an In-House-Developed GC-MS Method for 5α-Cholestanol According to ISO 15189:2012 Requirements.

, 2022
Objective: The aim of this study was to validate a gas chromatography-mass spectrometry (GC-MS) method for the measurement of 5 alpha-cholestanol in the clinical laboratory in agreement with ISO 15189 ...
Coker, Canan, Uysal, SEZER
core   +1 more source

An elegant technology for ultrasensitive impedimetric and voltammetric determination of cholestanol based on a novel molecularly imprinted electrochemical sensor [PDF]

, 2020
In this work, a novel molecularly imprinted electrochemical sensor (MIES) has been fabricated based on electropolymerization of a molecularly imprinted polymer (MIP) onto a glassy carbon electrode (GCE) modified with gold-palladium alloy nanoparticles ...
Jalili, F., Soleimani, S., Zangeneh, M. M., Jalili, Faramarz, Zangeneh, Mohammad Mahdi, Díaz Cruz, José Manuel, Diaz-Cruz, J. M., Soleimania, Shokoufeh, Jalalvand, A. R., Jalalvand, Ali R.   +9 more
core   +1 more source

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase

Journal of Lipid Research, 2010
The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. Mice with the same defect do not develop xanthomas. The driving force
Ann Båvner, Marjan Shafaati, Magnus Hansson, Maria Olin, Shoshi Shpitzen, Vardiella Meiner, Eran Leitersdorf, Ingemar Björkhem   +7 more
doaj   +1 more source

Conversion of cholesterol injected into man to cholestanol via a 3-ketonic intermediate

Journal of Lipid Research, 1967
Cholesterol-3-3H,4-14C was injected intravenously in man and its transformation to cholestanol was studied. From the 3H:14C ratios in cholestanol isolated from blood, evidence for the participation of a ketonic intermediate in the conversion was obtained.
R.S. Rosenfeld, Barnett Zumoff, Leon Hellman   +2 more
doaj   +1 more source

Features of the metabolic syndrome and subclinical atherosclerosis in patients with cerebrotendinous xanthomatosis: An augmented risk for premature cardiovascular disease

Frontiers in Genetics, 2022
Background: Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disease, caused by deficiency of sterol-27-hydroxylase. Xanthomatous lesions in numerous tissues, and an elevation of cholestanol levels, characterize the disease.
H. Cohen, H. Cohen, S. Hassin-Baer, S. Hassin-Baer, A. Shaish, A. Shaish   +5 more
doaj   +1 more source

Serum squalene and noncholesterol sterols before and after delivery in normal and cholestatic pregnancy

Journal of Lipid Research, 1996
Mechanisms of hyperlipidemia were studied by measurement of serum lipid concentrations and the ratios of cholesterol precursors (squalene, delta 8-cholestenol, desmosterol, and lathosterol), plant sterols (campesterol and sitosterol), and cholestanol (a ...
K Nikkilä, S Riikonen, M Lindfors, T A Miettinen   +3 more
doaj   +1 more source

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report

, 2021
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX.
Hamza Toufik, Najlae El Ouardi, Julien H Djossou, Mohamed Ahmed Ghassem, Lahsen Achemlal, Aziza Mounach, Ahmed Bezza   +6 more
core   +1 more source