Results 11 to 20 of about 2,254 (206)
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
Lipids in Health and Disease, 2019 Background Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively.
Monica Gelzo +7 more
doaj +2 more sources
Brain Sciences, 2023 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase.
Rodrigo Mariano Ribeiro +14 more
doaj +2 more sources
Neurología, 2011 Resumen: Introducción: la xantomatosis cerebro-tendinosa (XCT) es una enfermedad autosómica recesiva producida por un déficit de la enzima 27-hidroxilasa.
B. Pilo de la Fuente +8 more
doaj +2 more sources
High cholesterol absorption efficiency enhances proatherogenic properties of low-density lipoprotein particles. [PDF]
J Intern MedAbstract Background and Aims High cholesterol absorption efficiency is determined by genetic variation in small intestinal sterol transporters and affects one‐third of individuals. Their risk for atherosclerotic cardiovascular disease (ASCVD) is increased compared with low cholesterol absorbers, despite similar serum lipid concentrations.
Öörni K +7 more
europepmc +2 more sources
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]
J Inherit Metab DisABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N +9 more
europepmc +2 more sources
Cholestanol and survival with simvastatin [PDF]
BMJ, 1998 E J Wallis +8 more
openaire +2 more sources
Experimental Assessment of the Effects of Substrate Choice on the Duration of Chemical Signals in Fecal Scent-Marks of Free-Ranging Iberian Wolves. [PDF]
J Exp Zool A Ecol Integr PhysiolABSTRACT Chemical communication, typically based on feces, urine, and glandular secretions, often deposited as substrate scent marks, plays a key role in social organization and communication among many mammals, especially carnivores. This study assesses experimentally whether the type of substrate chosen for fecal deposition and the temperature ...
Espartosa E, Martin J, Barja I.
europepmc +2 more sources
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis. [PDF]
Muscle NerveABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Camelo-Filho AE +8 more
europepmc +2 more sources
Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]
J Inherit Metab DisABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc +2 more sources