Page last updated: 2024-08-21

chenodeoxycholic acid and Cataract, Membranous

chenodeoxycholic acid has been researched along with Cataract, Membranous in 14 studies

Research

Studies (14)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	2 (14.29)	18.2507
2000's	3 (21.43)	29.6817
2010's	7 (50.00)	24.3611
2020's	2 (14.29)	2.80

Authors

Authors	Studies
Igari, R; Iseki, C; Koyama, S; Ohta, Y; Okabe, Y; Sato, H; Suzuki, K; Suzuki, Y; Tanji, K	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
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
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T	1
Appadurai, V; Bonnen, PE; Chiang, PW; DeBarber, A; Patel, SB; Steiner, RD; Tyler, C	1
Abdel-Hamid, MS; Issa, MY; Otaify, GA; Zaki, MS	1
Aaref, S; Berginer, VM; Falik-Zaccai, TC; Gross, B; Kfir, N; Morad, K; Morkos, S	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
Kellermayer, R; Kosztolányi, G; Morava, E; Pfund, Z; Sistermans, E; Tészás, A; Wevers, RA	1
Burghaus, L; Haupt, WF; Liu, W	1
Houdent, C; Kerleau, JM; Lefebvre, H; Wolf, LM	1
Destée, A; Gérard, JM; Masingue, M; Michotte, A; Rogelet, P	1

Reviews

1 review(s) available for chenodeoxycholic acid and Cataract, Membranous

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

Other Studies

13 other study(ies) available for chenodeoxycholic acid and Cataract, Membranous

Article	Year
Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report. BMC neurology, 2022, May-25, Volume: 22, Issue:1 Topics: Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Diarrhea; Humans; Japan; Male; Mutation; Siblings; Xanthomatosis; Xanthomatosis, Cerebrotendinous	2022
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
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
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
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
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. Metabolic brain disease, 2017, Volume: 32, Issue:2 Topics: Adult; Age of Onset; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxygenase; Disease Progression; Frameshift Mutation; Humans; Learning Disabilities; Magnetic Resonance Imaging; Male; Pedigree; Psychotic Disorders; Seizures; Xanthomatosis, Cerebrotendinous	2017
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics, 2009, Volume: 123, Issue:1 Topics: Adolescent; Adult; Bile Acids and Salts; Cataract; Chenodeoxycholic Acid; Child, Preschool; Chronic Disease; Diagnosis, Differential; Diarrhea; Female; Humans; Male; Mutation; Pedigree; Prevalence; Time; Xanthomatosis, Cerebrotendinous; Young Adult	2009
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
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
[Early coronary atheroma. A little known complication of cerebrotendinous xanthomatosis]. Presse medicale (Paris, France : 1983), 1993, Oct-16, Volume: 22, Issue:31 Topics: Adult; Cataract; Chenodeoxycholic Acid; Coronary Artery Disease; Female; Humans; Leukoencephalopathy, Progressive Multifocal; Time Factors; Xanthomatosis	1993