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cholestanol and Lipid Metabolism, Inborn Error

cholestanol has been researched along with Lipid Metabolism, Inborn Error in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19902 (28.57)18.7374
1990's3 (42.86)18.2507
2000's0 (0.00)29.6817
2010's2 (28.57)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
DeBarber, AE; Jones, PJH; Mymin, D; Myrie, SB; Othman, RA; Roullet, JB; Steiner, RD1
Jun, SH; Lee, JH; Lee, K; Shin, CH; Song, J; Song, SH1
Björkhem, I; Oftebro, H; Pedersen, JI; Størmer, FC1
Berginer, V; Salen, G; Shefer, S1
Dotti, MT; Federico, A; Salen, G1
Hesselmans, LF; van der Molen, JC; Walrecht, H; Wolthers, BG1
Matsuzawa, Y; Nakamura, T1

Reviews

2 review(s) available for cholestanol and Lipid Metabolism, Inborn Error

ArticleYear
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

Trials

1 trial(s) available for cholestanol and Lipid Metabolism, Inborn Error

ArticleYear
Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.
    The Journal of pediatrics, 2017, Volume: 188

    Topics: Adolescent; Adult; Anticholesteremic Agents; Cholestanol; Cholestenones; Cholesterol; Ezetimibe; Female; Humans; Hypercholesterolemia; Intestinal Diseases; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Phytosterols; Sitosterols; Thyrotropin; Thyroxine; Triiodothyronine; Young Adult

2017

Other Studies

4 other study(ies) available for cholestanol and Lipid Metabolism, Inborn Error

ArticleYear
A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders.
    Annals of laboratory medicine, 2019, Volume: 39, Issue:4

    Topics: Cholestanol; Cholesterol; Gas Chromatography-Mass Spectrometry; Humans; Hypercholesterolemia; Intestinal Diseases; Limit of Detection; Lipid Metabolism, Inborn Errors; Phytosterols; Reference Standards; Sitosterols; Xanthomatosis, Cerebrotendinous

2019
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
Reduction of urinary bile alcohol excretion and serum cholestanol in patients with cerebrotendinous xanthomatosis after oral administration of deoxycholic acid.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Dec-14, Volume: 193, Issue:3

    Topics: Adult; Bile Acids and Salts; Cholestanol; Cholestanols; Deoxycholic Acid; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Xanthomatosis

1990
[Cerebrotendinous xanthomatosis and phytosterolemia].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5

    Topics: Bile Acids and Salts; Brain Diseases; Cholestanol; Cholesterol; Humans; Lipid Metabolism, Inborn Errors; Phytosterols; Xanthomatosis

1988