一名 NARS1 两种新型变异体患者的早期症状--早发吞咽困难和严重神经发育障碍：病例报告和文献综述。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-04-23 DOI:10.1007/s10048-024-00760-0

Carlo Alberto Cesaroni, G. Contrò, C. Spagnoli, Federica Cancelliere, S. Caraffi, Alberta Leon, Camilla Stefanini, D. Frattini, Susanna Rizzi, A. Cavalli, Livia Garavelli, C. Fusco

引用次数: 0

摘要

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.

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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.

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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.