11 Article(s)Download |
PMID | 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 |