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
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
Presenile Cataract: Consider Cholestanol [PDF]
Archives of Ophthalmology, 2006 Contains fulltext : 50065.pdf (Publisher’s version ) (Closed access)
Teszas, A. +6 more
openaire +5 more sources
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 +10 more
doaj +1 more source
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis. [PDF]
J Inherit Metab DisABSTRACT Many inborn errors of metabolism affect pathways involved in the synthesis of a metabolite that has an important biochemical or physiological function, and adverse effects of the disorder can be attributed to the lack of this metabolite. Thus, there is the opportunity for treatment by ‘product replacement’. One of the disorders in the pathways
Clayton PT, Hirachan R, Murphy E.
europepmc +2 more sources
Cultivar and Year-to-Year Variation of Phytosterol Content in Rye (Secale cereale L.) [PDF]
, 2004 Intake of phytosterols (and -stanols) has been shown to decrease the level of low-density lipoprotein cholesterol and thus protect against development of cardiovascular diseases.
Hansen, H.B. +3 more
core +1 more source
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 +4 more
doaj +1 more source
Low-fat nondairy minidrink containing plant stanol ester effectively reduces LDL cholesterol in subjects with mild to moderate hypercholesterolemia as part of a Western diet [PDF]
, 2013 Peer ...
Gylling, Helena +2 more
core +2 more sources
Effects of genotype and sowing date on phytostanol-phytosterol content and agronomic traits in wheat under organic agriculture [PDF]
, 2009 Cereals are an important source of sterols and stanols in the human diet. The present study underlines the effect of genotype and weather conditions in bread wheat, on total sterol and stanol content (TSS), agronomic traits, proteins and ash content ...
Alignan, Marion +5 more
core +1 more source
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 +7 more
doaj +1 more source