Page last updated: 2024-08-21

chenodeoxycholic acid and cholestanol

chenodeoxycholic acid has been researched along with cholestanol in 64 studies

Research

Studies (64)

Timeframe	Studies, this research(%)	All Research%
pre-1990	11 (17.19)	18.7374
1990's	12 (18.75)	18.2507
2000's	17 (26.56)	29.6817
2010's	18 (28.13)	24.3611
2020's	6 (9.38)	2.80

Authors

Authors	Studies
Einarsson, K; Hellström, K; Leijd, B	1
Huang, CT; Nichols, BL; Rodriguez, JT; Woodward, WE	1
Core, SK; Watne, AL	1
Berginer, VM	1
Destée, A; Gérard, JM; Masingue, M; Michotte, A; Rogelet, P	1
Berginer, V; Salen, G; Shefer, S	1
Dotti, MT; Federico, A; Salen, G	1
Kubo, M; Matsuzawa, Y; Miki, H; Nakamura, T; Takemura, K; Tarui, S	1
Fujiyama, J; Kasama, T; Kuriyama, M; Osame, M	1
Berginer, V; Horak, E; Horak, I; Salen, G; Shefer, S; Shore, V; Tint, GS	1
White, SW	1
Doisy, EA; Elliott, WH; Noll, BW; Ziller, SA	1
Einarsson, K; Hellström, K; Kallner, M	1
Ikawa, S; Ikeguchi, M; Kaibara, N; Koga, S; Sasaki, T	1
de Jager, AE; Gips, CH; Koopman, BJ; van der Molen, JC; Waterreus, RJ; Wolthers, BG	1
Bartlett, JG; Chang, TW; Gorbach, SL	1
Björkhem, I; Oftebro, H; Pedersen, JI; Størmer, FC	1
Fujiyama, J; Kuriyama, M; Osame, M; Tokimura, Y; Utatsu, Y	1
Batta, AK; Salen, G; Shefer, S; Tint, GS	1
Fujiyama, J; Kuriyama, M; Mimura, Y; Osame, M; Takesako, K; Tanaka, N; Tokimura, Y	1
Cruysberg, JR; Renier, WO; Tangerman, A; Tolboom, JJ; van Heijst, AF; Wevers, RA	1
Cruysberg, JR; Renier, WO; Tolboom, JJ; van Heijst, AF; Verrips, A; Wevers, RA	1
Kinoshita, M; Teramoto, T	1
Biller, J; Fleck, JD; Mathews, VP	1
Inoue, K; Kubota, S; Seyama, Y	1
Dotti, MT; Federico, A; Mondelli, M; Scarpini, C; Sicurelli, F	1
Frohlich, JJ; Moghadasian, MH; Salen, G; Scudamore, CH	1
Grau, AJ; Heller, R; Schäbitz, WR; Schwaninger, M	1
Seyama, Y	1
Arai, H; Hattori, T; Ito, S; Kuwabara, S; Oda, S; Oki, T; Sakakibara, R	1
Matschke, J; Sperhake, JP	1
Dotti, MT; Federico, A; Lütjohann, D; von Bergmann, K	1
Clarenbach, JJ; Dotti, MT; Federico, A; Kelleher, JK; Lindenthal, B; von Bergmann, K	1
Clemen, CS; Dodel, R; Klockgether, T; Lütjohann, D; Spottke, EA; Urbach, H; von Bergmann, K	1
Gadoth, N; Meiner, V; Siman-Tov, T	1
Kellermayer, R; Kosztolányi, G; Morava, E; Pfund, Z; Sistermans, E; Tészás, A; Wevers, RA	1
Ben-Ari, A; Boutboul, E; Gershkovich, P; Gotkine, M; Harats, D; Hoffman, A; Leitersdorf, E; Liberman, Y; Meiner, V; Shaish, A; Szalat, A	1
Burghaus, L; Haupt, WF; Liu, W	1
Chawla, BP; Mukherjee, AA; Puthran, RS; Rathi, SS	1
Berger, R; de Barse, M; de Sain-van der Velden, MG; Prinsen, BH; Verrips, A; Visser, G	1
Anadiotis, G; Bock, CJ; DeBarber, AE; Merkens, LS; Monson, DM; Steiner, RD; Stout, AU	1
Hur, KY; Jin, SM; Ki, CS; Kim, HK; Kim, JH; Kim, KW; Kim, MY; Kim, SW; Park, HD; Suh, S	1
Arawaka, S; Kato, T; Kawanami, T; Koyama, S; Saito, N; Tanji, H; Wada, M	1
Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Ginanneschi, F; Giorgi, S; Mignarri, A; Mondelli, M; Rossi, A	1
Del Puppo, M; Dotti, MT; Federico, A; Franci, B; Martini, G; Mignarri, A; Nuti, R; Ruvio, M; Valenti, R	1
Di Sapio, A; Dotti, MT; Federico, A; Gallus, GN; Giachino, DF; Mandrile, G; Montella, A; Mura, G; Sotgiu, MA; Ulgheri, L	1
Balogh, I; Harangi, J; Harangi, M; Kapás, I; Katkó, M; Kovács, GG; Madar, L; Molnár, MJ; Paragh, G; Seres, I; Varga, VE	1
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T	1
Björkhem, I; Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Magni, A; Mignarri, A	1
Appadurai, V; Bonnen, PE; Chiang, PW; DeBarber, A; Patel, SB; Steiner, RD; Tyler, C	1
Kato, T; Koyama, S	1
Alhariri, A; Cordoro, K; Hamilton, K; Malloy, M; Oza, V; Slavotinek, A; Sobreira, NL	1
Bonnot, O; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van Hasselt, PM; van Spronsen, FJ; Verrips, A; Wevers, RA	1
DeBarber, AE; Duell, PB; Loh, AR; Tibrewal, S	1
Amador, MDM; Debs, R; Degos, B; Lamari, F; Masingue, M; Mochel, F; Perlbarg, V; Roze, E	1
Elibol, B; Gocmen, R; Mutlu, D; Saygı, S; Tuncer, A; Yalcin-Cakmakli, G	1
Distrutti, E; Fiorucci, S	1
Cea, G; Contreras, JP; Guajardo, G; López, I; Martínez, A	1
Dotti, MT; Federico, A; Mignarri, A; Stelten, BML; Verma, S; Verrips, A	1
Koyama, S; Mochizuki, Y; Morizumi, T; Nakamura, K; Sekijima, Y; Takasone, K; Yoshinaga, T	1
Arslan, N; Baydan, F; Celik, FND; Dorum, S; Ekici, A; Gorukmez, O; Gulten, ZA; Hismi, BO; Kısa, PT; Kusbeci, OY; Ozkan, S; Topak, A; Yaman, A; Yildirim, GK	1
Hoshino, T; Nagata, S; Tominaga, M; Zaizen, Y	1
Boissiere, F; Bonnet, JB; Cheillan, D; Couvert, P; Cristol, JP; Di-Filippo, M; Moulin, P; Sultan, A; Sutra, T	1
Brassier, A; Bremond-Gignac, D; Dureau, P; Fernández-Eulate, G; Gillard, P; Lamari, F; Martin, GC; Nadjar, Y; Pagan, C; Speeg-Spatz, C; Thouvenin, D	1

Reviews

10 review(s) available for chenodeoxycholic acid and cholestanol

Article	Year
[Cerebrotendinous xanthomatosis. 2 cases with magnetic resonance imaging]. Revue neurologique, 1992, Volume: 148, Issue:8-9 Topics: Achilles Tendon; Adult; Atrophy; Brain; Brain Diseases, Metabolic; Cataract; Chenodeoxycholic Acid; Cholestanol; Female; Humans; Magnetic Resonance Imaging; Pedigree; Xanthomatosis	1992
Biochemical abnormalities in cerebrotendinous xanthomatosis. Developmental neuroscience, 1991, Volume: 13, Issue:4-5 Topics: Bile Acids and Salts; Brain; Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Genes, Recessive; Humans; Lipid Metabolism, Inborn Errors; Liver; Tendons; Xanthomatosis	1991
Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing. Developmental neuroscience, 1991, Volume: 13, Issue:4-5 Topics: Aging; Bone Diseases, Metabolic; Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Electroencephalography; Female; Follow-Up Studies; Fractures, Spontaneous; Genetic Carrier Screening; Humans; Lipid Metabolism, Inborn Errors; Magnetic Resonance Imaging; Male; Mental Disorders; Pedigree; Tendons; Tomography, X-Ray Computed; Xanthomatosis	1991
[Cerebrotendinous xanthomatosis (CTX)]. Ryoikibetsu shokogun shirizu, 1998, Issue:19 Pt 2 Topics: Biomarkers; Chenodeoxycholic Acid; Cholagogues and Choleretics; Cholestanetriol 26-Monooxygenase; Cholestanol; Cytochrome P-450 Enzyme System; Diagnosis, Differential; Humans; Mitochondria; Prognosis; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	1998
[Cerebrotendinous xanthomatosis]. Nihon rinsho. Japanese journal of clinical medicine, 2001, Volume: 59 Suppl 3 Topics: Animals; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cytochrome P-450 Enzyme System; Diagnosis, Differential; Humans; Mutation; Prognosis; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2001
Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Archives of neurology, 2002, Volume: 59, Issue:4 Topics: Brain Diseases; Chenodeoxycholic Acid; Cholestanol; Diagnosis, Differential; Humans; Hyperlipoproteinemia Type II; Musculoskeletal Diseases; Sitosterols; Tendons; Xanthomatosis	2002
Cholestanol metabolism, molecular pathology, and nutritional implications. Journal of medicinal food, 2003,Fall, Volume: 6, Issue:3 Topics: Animals; Calcium Channels; Cell Membrane; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Disease Models, Animal; Mice; Mutation; Rats; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2003
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis]. Orvosi hetilap, 2014, May-25, Volume: 155, Issue:21 Topics: Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Clinical Laboratory Techniques; Early Diagnosis; Gas Chromatography-Mass Spectrometry; Gene Expression Regulation, Enzymologic; Genetic Testing; Global Health; Humans; Hungary; Infant, Newborn; Neonatal Screening; Rare Diseases; Tendons; Xanthomatosis, Cerebrotendinous	2014
Pathophysiology of cerebrotendinous xanthomatosis. Rinsho shinkeigaku = Clinical neurology, 2016, 12-28, Volume: 56, Issue:12 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Diagnosis, Differential; Disease Progression; Early Diagnosis; Humans; Mutation; Severity of Illness Index; Xanthomatosis, Cerebrotendinous	2016
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. Handbook of experimental pharmacology, 2019, Volume: 256 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Humans; Liver; Receptors, Cytoplasmic and Nuclear; Receptors, G-Protein-Coupled; Xanthomatosis, Cerebrotendinous	2019

Trials

3 trial(s) available for chenodeoxycholic acid and cholestanol

Article	Year
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study. Journal of the neurological sciences, 2001, Sep-15, Volume: 190, Issue:1-2 Topics: Adult; Chenodeoxycholic Acid; Cholestanol; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Evoked Potentials, Visual; Female; Gastrointestinal Agents; Humans; Male; Nervous System; Neural Conduction; Reaction Time; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2001
Combined treatment with LDL-apheresis, chenodeoxycholic acid and HMG-CoA reductase inhibitor for cerebrotendinous xanthomatosis. Journal of the neurological sciences, 2003, Dec-15, Volume: 216, Issue:1 Topics: Adult; Blood Component Removal; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Combined Modality Therapy; Drug Therapy, Combination; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lipoproteins, LDL; Male; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2003
Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment. Biochimica et biophysica acta, 2007, Volume: 1771, Issue:7 Topics: Adult; Antibiotics, Antitubercular; Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanol; Cytochrome P-450 CYP3A; Cytochrome P-450 Enzyme System; Enzyme Activation; GABA Modulators; Humans; Male; Midazolam; Rifampin; Xanthomatosis, Cerebrotendinous	2007

Other Studies

51 other study(ies) available for chenodeoxycholic acid and cholestanol

Article	Year
Bile acid kinetics and steroid balance during nicotinic acid therapy in patients with hyperlipoproteinemia types II and IV. The Journal of laboratory and clinical medicine, 1977, Volume: 90, Issue:4 Topics: Adult; Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Feces; Female; Humans; Hypercholesterolemia; Hyperlipidemias; Kinetics; Lipoproteins, LDL; Lipoproteins, VLDL; Male; Middle Aged; Nicotinic Acids; Steroids; Triglycerides; Xanthomatosis	1977
Comparison of patterns of fecal bile acid and neutral sterol between children and adults. The American journal of clinical nutrition, 1976, Volume: 29, Issue:11 Topics: Adult; Age Factors; Bile Acids and Salts; Chenodeoxycholic Acid; Child, Preschool; Cholestanol; Cholesterol; Cholic Acids; Deoxycholic Acid; Feces; Female; Humans; Infant; Lithocholic Acid; Male; Sterols	1976
Fecal steroids in polyposis coli and ileorectostomy patients. The Journal of surgical research, 1975, Volume: 19, Issue:3 Topics: Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Colectomy; Colonic Neoplasms; Deoxycholic Acid; Feces; Humans; Ileum; Intestinal Polyps; Lithocholic Acid; Neoplasms, Multiple Primary; Rectum; Sterols; Syndrome	1975
[Cerebrotendinous xanthomatosis]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1992, Volume: 92, Issue:4 Topics: Achilles Tendon; Adolescent; Adult; Brain; Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Female; Humans; Muscular Diseases; Xanthomatosis	1992
Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 1991, Volume: 40, Issue:7 Topics: Adult; Anticholesteremic Agents; Bile Acids and Salts; Brain Diseases; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Chromatography, High Pressure Liquid; Drug Therapy, Combination; Heptanoic Acids; Humans; Male; Muscular Diseases; Naphthalenes; Pravastatin; Tendons; Xanthomatosis	1991
High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. Journal of lipid research, 1991, Volume: 32, Issue:2 Topics: Adult; Bile; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Chromatography, High Pressure Liquid; Coronary Disease; Female; Humans; Male; Middle Aged; Phytosterols; Sitosterols; Xanthomatosis	1991
Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid. The New England journal of medicine, 1987, May-14, Volume: 316, Issue:20 Topics: Albumins; Apolipoproteins; Apolipoproteins B; Blood-Brain Barrier; Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Female; Humans; Male; Phosphatidylcholine-Sterol O-Acyltransferase; Tendons; Xanthomatosis	1987
Cerebrotendinous xanthomatosis is treatable. Pediatric dermatology, 1985, Volume: 2, Issue:4 Topics: Adolescent; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Female; Humans; Tendons; Xanthomatosis	1985
Bile acids. XXXVII. Identification of the 3 beta isomers of allocholic and allochenodeoxycholic acids as metabolites of 5 -cholestanol in the rat. Journal of lipid research, 1973, Volume: 14, Issue:2 Topics: Animals; Bile; Bile Acids and Salts; Carbon Isotopes; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Chromatography; Isomerism; Male; Rats; Tritium	1973
Influence of deoxycholic acid feeding on the elimination of cholesterol in normolipaemic subjects. Clinical science and molecular medicine, 1974, Volume: 47, Issue:5 Topics: Administration, Oral; Bile Acids and Salts; Carbon Radioisotopes; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Chromatography, Gas; Chromatography, Thin Layer; Deoxycholic Acid; Feces; Humans; Tritium	1974
Fecal bile acids and neutral sterols in Japanese with large bowel carcinoma. Oncology, 1983, Volume: 40, Issue:4 Topics: Aged; Bile; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Colonic Neoplasms; Feces; Female; Humans; Japan; Lithocholic Acid; Male; Middle Aged; Rectal Neoplasms	1983
Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis). Clinica chimica acta; international journal of clinical chemistry, 1984, Mar-13, Volume: 137, Issue:3 Topics: Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Chromatography, Gas; Gas Chromatography-Mass Spectrometry; Humans; Liver Diseases; Xanthomatosis	1984
Inhibition of binding of Clostridium difficile toxin by steroids. The Journal of infectious diseases, 1980, Volume: 142, Issue:1 Topics: Binding, Competitive; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Cholic Acids; Clostridium; Deoxycholic Acid; Humans; Lithocholic Acid; Sitosterols; Toxins, Biological	1980
Cerebrotendinous xanthomatosis: defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors. Journal of lipid research, 1981, Volume: 22, Issue:4 Topics: Adult; Brain Diseases, Metabolic; Chenodeoxycholic Acid; Cholestanol; Cholestenones; Chromatography, High Pressure Liquid; Female; Gas Chromatography-Mass Spectrometry; Humans; Hydroxycholesterols; Hydroxylation; Lipid Metabolism, Inborn Errors; Microsomes, Liver; Mitochondria, Liver; Tendinopathy; Xanthomatosis	1981
Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. Journal of the neurological sciences, 1994, Volume: 125, Issue:1 Topics: Adult; Apolipoproteins; Brain Diseases; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Drug Therapy, Combination; Electrophysiology; Humans; Lipids; Lipoproteins; Male; Middle Aged; Muscular Diseases; Phytosterols; Pravastatin; Tendons; Xanthomatosis	1994
Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 1994, Volume: 43, Issue:8 Topics: Adult; Bile; Chenodeoxycholic Acid; Cholestanol; Humans; Lovastatin; Male; Xanthomatosis	1994
Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. Journal of the neurological sciences, 1993, Volume: 114, Issue:2 Topics: Achilles Tendon; Adult; Blood Component Removal; Brain Stem; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Combined Modality Therapy; Electroencephalography; Evoked Potentials, Auditory; Evoked Potentials, Somatosensory; Humans; Lipoproteins, LDL; Male; Middle Aged; Xanthomatosis	1993
Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis. Acta paediatrica (Oslo, Norway : 1992), 1996, Volume: 85, Issue:8 Topics: Administration, Oral; Bile Acids and Salts; Chenodeoxycholic Acid; Child; Cholestanol; Cholestanols; Chronic Disease; Diarrhea; Female; Gastrointestinal Agents; Humans; Male; Xanthomatosis, Cerebrotendinous	1996
Treatment and follow-up of children with cerebrotendinous xanthomatosis. European journal of pediatrics, 1998, Volume: 157, Issue:4 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Child; Cholestanol; Cholestanols; Cholesterol; Female; Follow-Up Studies; Humans; Male; Neurologic Examination; Xanthomatosis, Cerebrotendinous	1998
Neuroimages: cerebrotendinous xanthomatosis. Neurology, 2000, Aug-22, Volume: 55, Issue:4 Topics: Chenodeoxycholic Acid; Cholestanol; Cognition Disorders; Female; Gait Ataxia; Humans; Middle Aged; Muscle Spasticity; Reflex, Abnormal; Xanthomatosis, Cerebrotendinous	2000
[Cerebrotendinous xanthomatosis, a treatable metabolic disorder]. Der Nervenarzt, 2002, Volume: 73, Issue:12 Topics: Adult; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Chromosome Aberrations; Diagnosis, Differential; Female; Follow-Up Studies; Genes, Recessive; Humans; Magnetic Resonance Imaging; Middle Aged; Neurologic Examination; Steroid Hydroxylases; Treatment Outcome; Triglycerides; Xanthomatosis, Cerebrotendinous	2002
[Cerebrotendinous xanthomatosis--a treatable metabolic disorder]. Der Nervenarzt, 2004, Volume: 75, Issue:6 Topics: Adult; Brain; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Chromosome Aberrations; Diagnosis, Differential; Female; Follow-Up Studies; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neurologic Examination; Steroid Hydroxylases; Treatment Outcome; Triglycerides; Xanthomatosis, Cerebrotendinous	2004
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004, Volume: 25, Issue:4 Topics: Blood Component Removal; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Drug Therapy, Combination; Gastrointestinal Agents; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Lipoproteins, LDL; Male; Middle Aged; Reference Values; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2004
Isotopomer spectral analysis of intermediates of cholesterol synthesis in patients with cerebrotendinous xanthomatosis. Metabolism: clinical and experimental, 2005, Volume: 54, Issue:3 Topics: Adult; Bile; Bile Acids and Salts; Carbon Isotopes; Chenodeoxycholic Acid; Cholestanol; Cholestanols; Cholesterol; Female; Gas Chromatography-Mass Spectrometry; Humans; Isotope Labeling; Lanosterol; Male; Middle Aged; Pravastatin; Sterols; Xanthomatosis, Cerebrotendinous	2005
Cerebrotendinous xanthomatosis: a treatable ataxia. Neurology, 2005, Apr-26, Volume: 64, Issue:8 Topics: Adult; Cerebellar Ataxia; Cerebellum; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Disease Progression; Electroencephalography; Humans; Magnetic Resonance Imaging; Male; Paraparesis, Spastic; Peripheral Nervous System Diseases; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2005
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis? Journal of the neurological sciences, 2006, Apr-15, Volume: 243, Issue:1-2 Topics: Achilles Tendon; Adult; Brain; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Diagnosis, Differential; Diagnostic Errors; Disease Progression; Down-Regulation; Humans; Male; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Prednisone; Simvastatin; Steroid Hydroxylases; Steroids; Treatment Outcome; Up-Regulation; Xanthomatosis, Cerebrotendinous	2006
Presenile cataract: consider cholestanol. Archives of ophthalmology (Chicago, Ill. : 1960), 2006, Volume: 124, Issue:10 Topics: Adult; Cataract; Cataract Extraction; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholestanols; DNA Mutational Analysis; Female; Humans; Male; Mutation; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous	2006
[Cerebrotendinous xanthomatosis]. Deutsche medizinische Wochenschrift (1946), 2007, Jul-29, Volume: 132, Issue:27 Topics: Adult; Brain; Cataract; Chenodeoxycholic Acid; Cholestanol; Cholesterol; Dementia; Diagnosis, Differential; Female; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Simvastatin; Treatment Outcome; Xanthomatosis, Cerebrotendinous	2007
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia. The Journal of the Association of Physicians of India, 2007, Volume: 55 Topics: Adult; Ataxia; Chenodeoxycholic Acid; Cholestanol; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Male; Xanthomatosis, Cerebrotendinous	2007
Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 Topics: Biomarkers; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestadienols; Cholestanol; Cholesterol; Dehydrocholesterols; Humans; Lanosterol; Male; Predictive Value of Tests; Sitosterols; Time Factors; Treatment Outcome; Up-Regulation; Xanthomatosis, Cerebrotendinous	2008
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Archives of ophthalmology (Chicago, Ill. : 1960), 2011, Volume: 129, Issue:8 Topics: Cataract; Cataract Extraction; Chenodeoxycholic Acid; Child; Cholestanol; Diarrhea; Female; Humans; Lens Implantation, Intraocular; Male; Visual Acuity; Xanthomatosis, Cerebrotendinous	2011
Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. European journal of medical genetics, 2012, Volume: 55, Issue:1 Topics: Adult; Amino Acid Substitution; Cataract; Cerebellar Ataxia; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Female; Humans; INDEL Mutation; Intellectual Disability; Male; Middle Aged; Pedigree; Peripheral Nervous System Diseases; Sequence Analysis, DNA; Siblings; Xanthomatosis, Cerebrotendinous	2012
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. Clinical neurology and neurosurgery, 2012, Volume: 114, Issue:7 Topics: Adolescent; Brain; Chenodeoxycholic Acid; Cholagogues and Choleretics; Cholestanetriol 26-Monooxygenase; Cholestanol; DNA; Electroencephalography; Epilepsy; Exons; Female; Humans; Magnetic Resonance Imaging; Mutation; Neurologic Examination; Xanthomatosis, Cerebrotendinous	2012
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. Journal of neurology, 2013, Volume: 260, Issue:1 Topics: Action Potentials; Adolescent; Adult; Aged; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Electromyography; Female; Humans; Logistic Models; Male; Middle Aged; Mutation; Neural Conduction; Neurologic Examination; Neuroprotective Agents; Polyneuropathies; Statistics, Nonparametric; Xanthomatosis, Cerebrotendinous; Young Adult	2013
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. Calcified tissue international, 2013, Volume: 92, Issue:3 Topics: Absorptiometry, Photon; Adolescent; Adult; Bone Density; Chenodeoxycholic Acid; Cholestanol; Female; Gastrointestinal Agents; Humans; Male; Osteoporosis; Time; Vitamin D; Xanthomatosis, Cerebrotendinous; Young Adult	2013
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014, Volume: 35, Issue:8 Topics: Amino Acid Substitution; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Consanguinity; Diagnosis, Differential; Female; Genotype; Haplotypes; Humans; Italy; Male; Middle Aged; Mutation, Missense; Paraplegia; Phenotype; Point Mutation; Xanthomatosis, Cerebrotendinous	2014
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. Internal medicine (Tokyo, Japan), 2014, Volume: 53, Issue:23 Topics: Achilles Tendon; Alanine; Ataxia; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Deglutition Disorders; Dysarthria; Dystonia; Early Diagnosis; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Middle Aged; Muscle Spasticity; Muscle Weakness; Mutation; Pedigree; Radiography; Treatment Outcome; Valine; Xanthomatosis, Cerebrotendinous	2014
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1 Topics: Adolescent; Adult; Bile Acids and Salts; Biomarkers; Chenodeoxycholic Acid; Cholestanol; Cholestenones; Cholesterol; Disease Progression; Female; Humans; Hydroxycholesterols; Lipid Metabolism; Male; Middle Aged; Prognosis; Xanthomatosis, Cerebrotendinous; Young Adult	2016
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Molecular genetics and metabolism, 2015, Volume: 116, Issue:4 Topics: Africa; Alleles; Americas; Asia; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Chronic Disease; Computational Biology; Databases, Genetic; Diarrhea; Europe; Exome; Gene Frequency; Genes, Recessive; Humans; Incidence; Mutation; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2015
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. American journal of medical genetics. Part A, 2017, Volume: 173, Issue:8 Topics: Achilles Tendon; Adult; Bile Acids and Salts; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Codon, Nonsense; Humans; Male; Xanthomatosis, Cerebrotendinous	2017
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:4 Topics: Adolescent; Adult; Autism Spectrum Disorder; Cataract; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestanol; Diarrhea; Female; Humans; Intellectual Disability; Male; Retrospective Studies; Xanthomatosis, Cerebrotendinous; Young Adult	2018
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017, Volume: 21, Issue:6 Topics: Astigmatism; Cataract; Cataract Extraction; Cathartics; Chenodeoxycholic Acid; Child; Cholestanol; Early Diagnosis; Humans; Male; Myopia; Visual Acuity; Xanthomatosis, Cerebrotendinous	2017
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. Journal of inherited metabolic disease, 2018, Volume: 41, Issue:5 Topics: Adolescent; Adult; Brain; Chenodeoxycholic Acid; Child; Cholestanol; Diarrhea; Electromyography; Female; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Middle Aged; Neurodegenerative Diseases; Neurologic Examination; Retrospective Studies; Severity of Illness Index; Xanthomatosis, Cerebrotendinous; Young Adult	2018
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. Neurology, 2019, 02-26, Volume: 92, Issue:9 Topics: Adult; Cerebellar Nuclei; Cerebral Crus; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Female; Humans; Internal Capsule; Late Onset Disorders; Magnetic Resonance Imaging; Spinal Cord; Spinal Cord Diseases; Xanthomatosis, Cerebrotendinous	2019
[Cerebrotendinous xanthomatosis. Report of one case]. Revista medica de Chile, 2019, Volume: 147, Issue:5 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Early Diagnosis; Female; Humans; Magnetic Resonance Imaging; Vitamin D; Xanthomatosis, Cerebrotendinous; Young Adult	2019
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020, Volume: 41, Issue:4 Topics: Adult; Biomarkers; Chenodeoxycholic Acid; Cholestanol; Follow-Up Studies; Gastrointestinal Agents; Humans; Italy; Middle Aged; Netherlands; Retrospective Studies; Treatment Outcome; Xanthomatosis, Cerebrotendinous; Young Adult	2020
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. Internal medicine (Tokyo, Japan), 2020, Oct-15, Volume: 59, Issue:20 Topics: Cervical Cord; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Drug Therapy, Combination; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Magnetic Resonance Imaging; Male; Middle Aged; Mutation, Missense; Spinal Cord; Spinal Diseases; Xanthomatosis, Cerebrotendinous	2020
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement. Metabolic brain disease, 2021, Volume: 36, Issue:6 Topics: Adolescent; Adult; Chenodeoxycholic Acid; Child; Cholestanol; Cross-Sectional Studies; Early Diagnosis; Female; Humans; Male; Middle Aged; Xanthomatosis, Cerebrotendinous	2021
Cerebrotendinous xanthomatosis with radiological abnormalities of the chest. BMJ case reports, 2021, Sep-03, Volume: 14, Issue:9 Topics: Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Cholestanol; Humans; Male; Middle Aged; Radiography; Xanthomatosis, Cerebrotendinous	2021
Tuberous xanthomatosis is not necessarily associated with increased plasma concentrations of cholestanol in cerebrotendinous xanthomatosis. Journal of internal medicine, 2023, Volume: 293, Issue:1 Topics: Chenodeoxycholic Acid; Cholestanol; Cholesterol; Humans; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2023
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts. Orphanet journal of rare diseases, 2022, 12-13, Volume: 17, Issue:1 Topics: Adolescent; Adult; Cataract; Chenodeoxycholic Acid; Child; Child, Preschool; Cholestanol; Female; Humans; Infant; Prospective Studies; Xanthomatosis, Cerebrotendinous; Young Adult	2022