Xanthomatosis相关论文
Tumor biomarkers: help or mislead in the diagnosis of xanthogranulomatous cholecystitis?-analysis of
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Tumor biomarkers: help or mislead in the diagnosis of xanthogranulomatous cholecystitis?-analysis of
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Objective: To investigate the pathogenesis, exact nature, histologic feature of xanthogranulomatous interstitial......
脑腱黄瘤病(cerbrotendinous xanthomatosis,CTX)是由甾醇-27-羟化酶(CYP27A1)基因突变引起的罕见常染色体隐性遗传病,其发病率低,......
报告1例并发主动脉瓣狭窄的结节性黄瘤病,患独男,12岁。全身多发黄色结节12年,皮肤组织病理示真皮浅层大量泡沫细胞。心脏彩色多普勒......
目的对一个脑腱黄瘤病家系进行临床、病理及基因的分析。方法收集患者病史、家族史,进行影像学检查、神经肌肉活检。对患者及家族......