Results 161 to 170 of about 2,313 (193)
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Cerebrotendinous Xanthomatosis
Archives of Ophthalmology, 1976A case of presumed cerebrotendinous xanthomatosis is described. The association of cataracts with central nervous system signs and tendon xanthoma is noted. Deposition of cholestanol appears to be the primary lesion in this disease.
W P, Kearns, W S, Wood
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Paediatric cerebrotendinous xanthomatosis
Journal of Inherited Metabolic Disease, 1992Cerebrotendinous xanthomatosis (CTX; McKusick 213700) is a rare autosomal recessive inborn error of metabolism involving the mitochondrial 26-hydroxylation of the sterol side-chain in bile acid synthesis (Bjorkhem and Skrede 1989). Generally, patients with CTX are diagnosed in their third decade or later, symptoms appearing in or after the second ...
R A, Wevers +6 more
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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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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].
Deutsche medizinische Wochenschrift (1946), 2007A 43-year-old woman had since childhood suffered from progressive dementia. Gait ataxia and mild polyneuropathy were noted in the neurological examination. She also had painful xanthomas of the achilles tendons. A bilateral cataract operation had been performed during adolescence.An elevated concentration of cholestanol and a normal cholesterol level ...
L, Burghaus, W, Liu, W F, Haupt
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A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis
International Journal of Neuroscience, 2020Yi Tang, Dan Li, Dongmei Guo
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Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
Brain, 2000Aad Verrips +2 more
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Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress
Redox Report, 2007Luis Francisco Gonzalez-Cuyar +1 more
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