Compounds > cholestanol
Page last updated: 2024-08-17

cholestanol and Cataract

cholestanol has been researched along with Cataract in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (21.43)18.2507
2000's3 (21.43)29.6817
2010's6 (42.86)24.3611
2020's2 (14.29)2.80

Authors

AuthorsStudies
Brassier, A; Bremond-Gignac, D; Dureau, P; Fernández-Eulate, G; Gillard, P; Lamari, F; Martin, GC; Nadjar, Y; Pagan, C; Speeg-Spatz, C; Thouvenin, D1
Del Monte, MA; Diva, U; Donahue, SP; Drack, AV; Dutta, R; Freedman, SF; Fung, SSM; Imperiale, M; Jordan, CO; Lenhart, PD; Lim, ME; McCourt, EA; Miraldi Utz, VA; Nihalani, BR; Sabahi, T; Stahl, ED; VanderVeen, DK; Wilson, ME; Yen, KG1
Bonnot, O; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van Hasselt, PM; van Spronsen, FJ; Verrips, A; Wevers, RA1
DeBarber, AE; Duell, PB; Loh, AR; Tibrewal, S1
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T1
Appadurai, V; Bonnen, PE; Chiang, PW; DeBarber, A; Patel, SB; Steiner, RD; Tyler, C1
Anadiotis, G; Bock, CJ; DeBarber, AE; Merkens, LS; Monson, DM; Steiner, RD; Stout, AU1
Hur, KY; Jin, SM; Ki, CS; Kim, HK; Kim, JH; Kim, KW; Kim, MY; Kim, SW; Park, HD; Suh, S1
Moghadasian, MH1
Kellermayer, R; Kosztolányi, G; Morava, E; Pfund, Z; Sistermans, E; Tészás, A; Wevers, RA1
Burghaus, L; Haupt, WF; Liu, W1
Destée, A; Gérard, JM; Masingue, M; Michotte, A; Rogelet, P1
Fujiyama, J; Hokezu, Y; Kubota, R; Kuriyama, M; Nakagawa, M; Osame, M1
Bosanquet, RC; Laker, MF; McKenna, P; Morgan, SJ1

Reviews

2 review(s) available for cholestanol and Cataract

ArticleYear
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
    Clinical and investigative medicine. Medecine clinique et experimentale, 2004, Volume: 27, Issue:1

    Topics: Bile Acids and Salts; Cataract; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Codon; Databases as Topic; Diagnosis, Differential; Genotype; Humans; Liver; MEDLINE; Mutation; Nervous System Diseases; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous

2004
[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

12 other study(ies) available for cholestanol and Cataract

ArticleYear
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
Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023, Volume: 27, Issue:4

    Topics: Adolescent; Adult; Bile Acids and Salts; Cataract; Child; Child, Preschool; Cholestanol; Humans; Prevalence; Xanthomatosis, Cerebrotendinous; Young Adult

2023
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
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
Cerebrotendinous xanthomatosis: cranial CT and MRI studies in eight patients.
    Neuroradiology, 1992, Volume: 34, Issue:4

    Topics: Achilles Tendon; Adult; Atrophy; Brain; Brain Diseases, Metabolic; Cataract; Cholestanol; Chromosome Aberrations; Chromosome Disorders; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Tomography, X-Ray Computed; Xanthomatosis

1992
A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens.
    The British journal of ophthalmology, 1990, Volume: 74, Issue:10

    Topics: Adult; Aged; Brain Diseases; Cataract; Cholestanol; Cholesterol; Gas Chromatography-Mass Spectrometry; Humans; Lens Nucleus, Crystalline; Male; Tendons; Xanthomatosis

1990