戈谢病 1 型患者在接受底物减少疗法后出现鱼鳞病。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-08-05 DOI:10.1002/ajmg.a.63835

Jack Herbster, Carlos E. Prada, Carly A. Rasmussen, Allegra Quadri, Victoria Kuritza, Michael Viglione, Sheryl Hoyer

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引用次数: 0

摘要

我们描述了一例1型戈谢病患者在开始使用eliglustat进行底物还原疗法（SRT）数周后出现鱼鳞病的病例。在酶替代或SRT治疗戈谢病的文献中，没有关于鱼鳞病的报道。鱼鳞病见于2型和3型戈谢病，但不见于1型。这就提出了一个问题：为什么患者在开始接受SRT治疗后会出现鱼鳞病？

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

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Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1

We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the literature in enzyme replacement or SRT for Gaucher disease. Ichthyosis is seen with type 2 and 3 Gaucher disease, but not type 1. This raises the question: Why would a patient develop ichthyosis after starting SRT?

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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.