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Alpha-1 antitrypsin deficiency, hemochromatosis, Wilson's disease, galactosemia, and glycogen storage diseases are among the inherited diseases that interfere with the way the liver produces, processes, and stores enzymes, proteins, metals, and other substances the body needs to function properly.
阿尔法-1抗缺失,血色素、威尔森氏症、半乳糖、糖原贮藏疾病、遗传性疾病等方面的干扰肝脏产生方式、程序、商店、酵素、蛋白质、金属和其他物质的身体需要好好地运作。
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Objective: In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy arteriolar walls are thickened with destruction of vascular smooth muscle cells and deposits of granular osmiophilic material.
目的:伴有皮层下梗死和脑白质病的常染色体显性遗传性脑动脉病的病理特征是血管损害,首先侵及中-小动脉,以血管平滑肌细胞变性为特征并可见嗜锇酸颗粒物质沉积。
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The present invention also discloses the method of applying the polypeptide in treating various diseases, such as substance and energy metabolism disturbance, embryo development disturbance, growth disturbance, some tumors, some genetic diseases, hemopathy and immunological diseases.
本发明还公开了此多肽用于治疗多种疾病的方法,如物质与能量代谢障碍、胚胎发育障碍、生长发育障碍、某些各种肿瘤,某些遗传性,血液性疾病及免疫系统疾病等。
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Cystic fibrosis is a serious inherited disease that affects tiny channels that bring nutrients into and out of cells.
囊肿纤维化症是一种严重的遗传性疾病影响营养物质进出细胞的微小通道。
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lipoid proteinosis:类脂质蛋白沉积症
类脂质蛋白沉积症(lipoid proteinosis)又称Urbach-Wiethe病、皮肤黏膜透明蛋白变性(hyalinosis cutis et mucosae),是一种罕见的遗传性疾病. 常发生于婴儿,主要在皮肤、黏膜或内脏有无定形嗜伊红透明物质沉积,临床以眼睑增厚、肘膝黄色瘤样斑块伴声音嘶哑为特征.