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Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder of bile acid synthesis, caused by impaired hydroxylation of cholesterol side chains due to deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1), leading to accumulation of cholestanol and cholesterol in brain and other tissues.

文章摘要:脑腱黄瘤病是一种罕见的常染色体隐性遗传性胆汁酸合成障碍,由线粒体酶固醇27-羟化酶(CYP27A1)缺陷所致胆固醇侧链羟化受损引起,从而导致胆固烷醇和胆固醇在脑和其他组织贮积。

Methylmalonic acidemia is an autosomal recessive organic acidemia, which is charactered by various presentations, especially the neurological symptoms such as vomiting, lethargy and so on.

甲基丙二酸血症是一种常见的有机酸血症,属于常染色体隐性遗传,临床表现无特异性,以呕吐、嗜睡等神经系统症状为主。

PKU is one of the common disease in AA metabolism and it is autosomal recessive lnheritance.

PKU是氨基酸代谢障碍中较常见的一种,属常染色体隐性遗传。

Objective Caroli′s syndrome is a rare autosomal recessive hereditary disease.

目的Caroli′s综合征是一种罕见的常染色体隐性遗传病。

However, being an island, Reunion Island has a large number of autosomal recessive disorders, due to gene concentration.

然而患者是Reunion Island人,在这个岛有大量因基因异常导致的常染色体隐性遗传性疾病。

PURPOSE: Infantile esotropia is linked strongly to latent fixation nystagmus in human infants, but many features of this comorbidity are unknown.

目的:人类幼儿先天性内斜视与隐性注视性眼球震颤密切相关,但有关此病的很多特点还不清楚。

In order to analyze textual coherence, we should expand the scope of cohesive devices to all semantically related devices, including exophoric and implicit cohesion.

为了更好地分析语篇连贯,应该把衔接机制的范围扩大到所有语义联系机制,包括外指性衔接和隐性衔接。

Hepatolenticular Degeneration , also called Wilson's Disease is an autosomal recessive inherited disease, which mainly affects children and adolescents.

肝豆状核变性(Hepatolenticular Degeneration,HLD)又称Wilson's病,是一种好发于青少年的常染色体隐性遗传病。

Paper 2:Mutation analysis of EDA gene in Chinese families with X-linked hypohidrotic ectodermal dysplasiaX-linked hypohidrotic ectodermal dysplasia(XLHED,MIM305100) is a recessive disease characterized by severe hypohidrosis,hypotrichosis and hypodontia.

论文二X连锁无汗/少汗型外胚层发育不良中EDA基因致病突变鉴定X连锁隐性无汗/少汗型外胚层发育不良(X-linked anhidrotic/hypohidroticectodermal dysplasia,XLHED;MIM305100)是无汗/少汗型外胚层发育不良(anhidrotic/hypohidrotic ectodermal dysplasia,EDA)中最常见的一种,约占95%。

Therefore, how to determine inapparent infection and differentiate between infected and vaccinated animals is required for FMD prevention and control.

因此,如何判断隐性感染动物以及区别注苗动物和自然感染动物是口蹄疫防制技术研究的一项重要内容。

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As she looked at Warrington's manly face, and dark, melancholy eyes, she had settled in her mind that he must have been the victim of an unhappy attachment.

每逢看到沃林顿那刚毅的脸,那乌黑、忧郁的眼睛,她便会相信,他一定作过不幸的爱情的受害者。

Maybe they'll disappear into a pothole.

也许他们将在壶穴里消失

But because of its youthful corporate culture—most people are hustled out of the door in their mid-40s—it had no one to send.

但是因为该公司年轻的企业文化——大多数员工在40来岁的时候都被请出公司——一时间没有好的人选。