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Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. 2023

Jean-Baptiste Bonnet, and Philippe Couvert, and Mathilde Di-Filippo, and Florian Boissiere, and Jean-Paul Cristol, and Thibault Sutra, and David Cheillan, and Philippe Moulin, and Ariane Sultan
UMR 1302, Desbrest Institute of Epidemiology and Public Health, University of Montpellier, INSERM, CHU, Montpellier, France.

UI MeSH Term Description Entries
D002635 Chenodeoxycholic Acid A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones. Chenic Acid,Chenodeoxycholate,Chenodiol,Gallodesoxycholic Acid,Chenique Acid,Chenix,Chenofalk,Chenophalk,Henohol,Quenobilan,Quenocol,Sodium Chenodeoxycholate,Acid, Chenic,Acid, Chenique,Acid, Chenodeoxycholic,Acid, Gallodesoxycholic,Chenodeoxycholate, Sodium
D002784 Cholesterol The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. Epicholesterol
D004083 Cholestanol A cholesterol derivative found in human feces, gallstones, eggs, and other biological matter. Coprostanol,Dihydrocholesterol,beta-Cholestanol,5 alpha-Cholestan-3 alpha-ol,5 alpha-Cholestan-3 beta-ol,5 beta-Cholestan-3 alpha-ol,5 beta-Cholestan-3 beta-ol,Cholestan-3-ol,Cholestanol, (3alpha, 5beta)-Isomer,Coprosterol,5 alpha Cholestan 3 alpha ol,5 alpha Cholestan 3 beta ol,5 beta Cholestan 3 beta ol,Cholestan 3 ol,beta Cholestanol,beta-Cholestan-3 beta-ol, 5,beta-ol, 5 beta-Cholestan-3
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014973 Xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS. Xanthoma,Xanthomas,Xanthomatoses
D019294 Xanthomatosis, Cerebrotendinous An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. Van Bogaert-Scherer-Epstein Disease,Cerebral Cholesterinosis,Cerebrotendinous Xanthomatosis,Bogaert-Scherer-Epstein Disease, Van,Cerebral Cholesterinoses,Cerebrotendinous Xanthomatoses,Disease, Van Bogaert-Scherer-Epstein,Van Bogaert Scherer Epstein Disease,Xanthomatoses, Cerebrotendinous

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