Page last updated: 2024-10-16

choline and Xanthomatosis, Cerebrotendinous

choline has been researched along with Xanthomatosis, Cerebrotendinous in 2 studies

Xanthomatosis, Cerebrotendinous: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Embiruçu, EK1
Otaduy, MC1
Taneja, AK1
Leite, CC1
Kok, F1
Lucato, LT1
De Stefano, N1
Dotti, MT1
Mortilla, M1
Federico, A1

Trials

1 trial available for choline and Xanthomatosis, Cerebrotendinous

ArticleYear
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.
    Brain : a journal of neurology, 2001, Volume: 124, Issue:Pt 1

    Topics: Adult; Aspartic Acid; Axons; Brain; Cerebellum; Cerebral Ventricles; Choline; Creatine; Female; Huma

2001

Other Studies

1 other study available for choline and Xanthomatosis, Cerebrotendinous

ArticleYear
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis.
    AJNR. American journal of neuroradiology, 2010, Volume: 31, Issue:7

    Topics: Adult; Aspartic Acid; Cerebellum; Choline; Humans; Inositol; Lactic Acid; Magnetic Resonance Spectro

2010