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Cerebrotendinous xanthomatosis,a rare metabolic disease
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نویسنده
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siddiqui m.r. ,mahbub s. ,islam q.t.
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منبع
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journal of medicine (bangladesh) - 2012 - دوره : 13 - شماره : 1 - صفحه:92 -93
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چکیده
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Cerebrotendinous xanthomatosis (ctx) is a rare genetic lipid storage disease. ctx is characterised by childhood-onset cataract,adolescent to young adult-onset tendon xanthomas and adult-onset progressive neurological dysfunction (dementia,psychiatric disturbances,pyramidal and/or cerebellar signs and seizures). a 32-year-old male patient presented to us with the features of this rare genetic metabolic disorder.
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کلیدواژه
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Cerebrotendinous xanthomatosis; Lipid storage disease; Seizure; Tendon xanthoma
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آدرس
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department of medicine, Bangladesh, fcps medicine p-ii course, Bangladesh, department of medicine, Bangladesh
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Authors
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