伴有先天性糖基化紊乱 Ig 型（ALG12-CDG）的杜安综合征。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-01 DOI:10.1016/j.jaapos.2024.103954

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引用次数: 0

摘要

先天性糖基化紊乱 I 型（CDG-I）是一组常染色体隐性遗传的多系统疾病，由糖蛋白生物合成缺陷引起。虽然 CDG-I 患者的眼部异常已有描述，但与 ALG12-CDG （CDG-Ig）（CDG-I 的一种罕见亚型）相关的眼部异常却寥寥无几。我们报告了一例患有 ALG12-CDG 的 17 岁年轻女性的杜安综合征（一种先天性斜视综合征）。

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Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG)

Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.