Results 11 to 20 of about 1,764 (168)

High cholesterol absorption efficiency enhances proatherogenic properties of low‐density lipoprotein particles [PDF]

Journal of Internal Medicine, Volume 299, Issue 6, Page 711-725, June 2026.
Abstract 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.
Katariina Öörni, Lauri Äikäs, Maija Ruuth, Feven Tigistu‐Sahle, Reijo Käkelä, Ingmar Wester, Helena Gylling, Piia Simonen   +7 more
wiley   +2 more sources

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis [PDF]

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT 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.
Natalja Bouwhuis, Soumia Majait, Yasmin Polak, Aylene de Jong, Bart A. W. Jacobs, Frédéric M. Vaz, Willemijn G. Leen, E. Marleen Kemper, Eleonora L. Swart, Carla E. M. Hollak   +9 more
wiley   +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]

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 5, Page 462-475, June 2026.
ABSTRACT 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 ...
Elisa Espartosa, Jose Martin, Isabel Barja   +2 more
wiley   +2 more sources

Cerebrotendinous xanthomatosis: a literature review and case study [PDF]

Frontiers in Cardiovascular Medicine
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX.
Anthony Matta, Anthony Matta, Fabienne Ory Magne, Thierry Levade, Fabrice Bonneville, Jean Ferrières   +5 more
doaj   +2 more sources

FDA Approves First Targeted Treatment for Cerebrotendinous Xanthomatosis: A Perspective on a Landmark in Rare Lipid Storage Disease Therapy [PDF]

Health Science Reports
Background and Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to deficient sterol 27‐hydroxylase activity.
Laiba Jalal, Areeba Aamir Ali Basaria, Hermann Yokolo   +2 more
doaj   +2 more sources

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis [PDF]

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT 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.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +2 more sources

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome [PDF]

Journal of Lipid Research
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment.
Alexander Bauer Westbye, Lili L. Dizdarevic, Sandra R. Dahl, Emil Andreas Asprusten, Yngve Thomas Bliksrud, Anita Lövgren Sandblom, Ulf Diczfalusy, Per M. Thorsby, Kjetil Retterstøl   +8 more
doaj   +2 more sources

Cholic acid as a treatment for cerebrotendinous xanthomatosis: a comprehensive review of safety and efficacy [PDF]

Orphanet Journal of Rare Diseases
Cerebrotendinous xanthomatosis (CTX) is a rare treatable bile acid disorder caused by homozygous or compound heterozygous variants in CYP27A, a gene that encodes the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1). CYP27A1 facilitates the production
Gary Pasternack, Jeff Courtney, Gurdyal Kalsi   +2 more
doaj   +2 more sources

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

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy

Biomedicines, 2023
Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene.
Petar Brlek, Luka Bulić, David Glavaš Weinberger, Jelena Bošnjak, Tomislav Pavlović, Svetlana Tomić, Zdravka Krivdić Dupan, Igor Borić, Dragan Primorac   +8 more
doaj   +1 more source