Results 91 to 100 of about 265 (124)
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[Cerebrotendinous xanthomatosis].
Schweizerische medizinische Wochenschrift, 1991Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder due to an autosomal-recessive inherited defect of the hepatic mitochondrial steroid 26-hydroxylase. The resultant reduced biosynthesis of cholic and especially chenodeoxycholic acid and the increased production and accumulation of cholestanol and cholesterol in most tissues is ...
R W, Baumgartner +3 more
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A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis
International Journal of Neuroscience, 2020Dongmei Guo, Yi Tang
exaly
Cerebrotendinous xanthomatosis
2015A case of cerebrotendinous xanthomatosis in an Indonesian male, 25 years of age, is reported. The diagnosis was based on clinical features, laboratory and histopathologic examinations, without measurement of cholestanal concentration either in the plasma or in the xanthoma.Key Words: xanthoma - normolipidemia lipoidosis - cataracta juvenilis ...
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Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Brain, 2000Baziel G M van Engelen +2 more
exaly
Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress
Redox Report, 2007George Perry +2 more
exaly
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis
Journal of Clinical Lipidology, 2018Florian S Eichler +2 more
exaly