Page last updated: 2024-11-08

alanine and Xanthomatosis, Cerebrotendinous

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

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

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
Yoshinaga, T1
Sekijima, Y1
Koyama, S1
Maruyama, K1
Yoshida, T1
Kato, T1
Ikeda, S1
Bartholdi, D1
Zumsteg, D1
Verrips, A1
Wevers, RA1
Sistermans, E1
Hess, K1
Jung, HH1

Other Studies

2 other studies available for alanine and Xanthomatosis, Cerebrotendinous

ArticleYear
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-Monooxy

2014
Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
    Journal of neurology, 2004, Volume: 251, Issue:1

    Topics: Age of Onset; Alanine; Bile Acids and Salts; Cholestanetriol 26-Monooxygenase; Cholestanol; Choleste

2004