نتایج جستجو برای: autosomal recessive non

تعداد نتایج: 1353235  

Journal: :European Medical Journal Neurology 2023

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It manifested by various neurological non-neurological symptoms. The characteristic imaging features clinical symptoms can help make an early diagnosis induce timely treatment prevent sequelae....

Journal: :Journal of the Royal Society of Medicine 1983

Journal: :Indian Journal of Ophthalmology 2020

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