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

cholestanol and Intellectual Disability

cholestanol has been researched along with Intellectual Disability in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (20.00)29.6817
2010's4 (80.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bonnot, O; Huidekoper, HH; Kluijtmans, LAJ; Stelten, BML; van Hasselt, PM; van Spronsen, FJ; Verrips, A; Wevers, RA1
Amador, MDM; Debs, R; Degos, B; Lamari, F; Masingue, M; Mochel, F; Perlbarg, V; Roze, E1
Ikeda, S; Kato, T; Koyama, S; Maruyama, K; Sekijima, Y; Yoshida, T; Yoshinaga, T1
Hur, KY; Jin, SM; Ki, CS; Kim, HK; Kim, JH; Kim, KW; Kim, MY; Kim, SW; Park, HD; Suh, S1
Cardaioli, E; Da Pozzo, P; Dotti, MT; Federico, A; Gallus, GN; Patiño, ME; Rufa, A; Schenone, A; Sfaelo, Z; Szlago, M1

Other Studies

5 other study(ies) available for cholestanol and Intellectual Disability

ArticleYear
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
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
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
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
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
    Neurology, 2008, Jan-29, Volume: 70, Issue:5

    Topics: Adolescent; Argentina; Brain; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; DNA Mutational Analysis; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Intellectual Disability; Magnetic Resonance Imaging; Male; Mitochondria; Mutation; Tremor; Xanthomatosis, Cerebrotendinous

2008