Results 151 to 160 of about 2,521 (182)
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Cerebrotendinous Xanthomatosis
2022Clinical History: 23-year-old mentally retarded female patient, presented with a history of seizures since childhood. On examination, the patient had cataracts bilaterally and soft tissue swellings along the posterior aspect of both ankles. No other significant family or personal history.
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Movement disorders in cerebrotendinous xanthomatosis
Parkinsonism and Related Disorders, 2019 Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations.
Bianca M L Stelten +2 more
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Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis [PDF]
Frontiers in NeurologyGuoliang Y +10 more
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Cerebrotendinous Xanthomatosis Is Treatable
Pediatric Dermatology, 1985Abstract: Cerebrotendinous xanthomatosis is a recessively inherited disorder of bile acid metabolism. Cataracts and tendinous xanthomas begin during ado‐lescence. Results of routine tests of plasma lipids are normal. Therapy with chenodeoxycholic acid may reduce the production of cholestanol and thus slow the course of the disease.
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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
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