CATARACTS

作品数：34被引量：27H指数：3
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相关领域：医药卫生更多>>
相关作者：刘奕志沈烨宇江顺化杨静刘文斌更多>>
相关机构：中山大学南京医科大学更多>>
相关期刊：《International Journal of Ophthalmology(English edition)》《Chinese Medical Journal》《Open Journal of Ophthalmology》《Eye and Vision》更多>>
相关基金：国家自然科学基金更多>>
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Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation:A case report
《World Journal of Clinical Cases》2022年第29期10681-10688,共8页Yue-Yue Chang Chuan-Qing Yu Lei Zhu 
Supported by the Key project of Education Department of Anhui Province,No. KJ2019A0096;Huainan science and technology planning project,No. 2016A26(3);Project Research Fund of Anhui University of Science and Technology,No. fsyyyb2020-03。
BACKGROUND Cerebrotendinous xanthomatosis is an autosomal recessive disorder of lipid metabolism caused by the mutation of the CYP27A1 gene encoding sterol 27-hydroxylase,an essential enzyme for the conversion of chol...
关键词：Cerebrotendinous xanthomatosis CYP27A1 gene ATAXIA Juvenile cataracts Tendon xanthoma Lipid metabolism Case report 
Bilateral hypocalcaemic cataracts due to idiopathic parathyroid insufficiency:A case report
《World Journal of Clinical Cases》2022年第26期9378-9383,共6页Yan Li 
BACKGROUND Hypoparathyroidism is uncommon,and cataracts secondary to hypoparathyroidism are even rarer.Herein,we report a case of bilateral cataracts following hypoparathyroidism.CASE SUMMARY A 27-year-old man present...
关键词：Posterior subcapsular cataract HYPOCALCEMIA HYPOPARATHYROIDISM Case report 
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