Page last updated: 2024-10-17

creatine and Xanthomatosis, Cerebrotendinous

creatine has been researched along with Xanthomatosis, Cerebrotendinous in 1 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 (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
De Stefano, N1
Dotti, MT1
Mortilla, M1
Federico, A1

Trials

1 trial available for creatine 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