Cholestanols

cytochrome P450 family 27 subfamily A member 1 ; Homo sapiens







11 Article(s)
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Title
Pub. Year
#Total Relationships
1 31875301 A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. 2021 Apr 1
2 33967188 Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments. 2021 Sep 1 1
3 31536098 Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts. 2019 Nov 1 3
4 31741606 Cerebrotendinous xanthomatosis - A case report. 2019 Jul-Sep 1
5 28590052 Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. 2017 Aug 1
6 17444890 Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. 2007 May 1
7 15795599 Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy. 2005 Apr 1
8 1749214 Inborn errors of bile acid metabolism. 1991 1
9 3685870 Normal activity of C27-steroid 26-hydroxylase in cultured sitosterolaemia fibroblasts. 1987 Nov 1
10 3777973 Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis. 1986 Nov 1
11 7376230 A facile synthesis of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol. 1980 Apr 1