Background: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families. Scholars have devoted themselves to studying MPS’s pathogenesis and treatment modalities and have published many papers. Therefore, we conducted a bibliometric and visual study of the top 100 most highly cited articles to provide researchers with an indication of the current state of research and potential directions in the field.Methods: The Web of Science Core Collection was searched for articles on MPS from 1 January 1900, to 8 November 2023, and the top 100 most cited articles were screened. The title, year of publication, institution, country, and first author of the articles were extracted and statistically analyzed using Microsoft Excel 2007. Keyword co-occurrence and collaborative networks were analyzed using VOSviewer 1.6.16.Results: A total of 9,273 articles were retrieved, and the top 100 most cited articles were filtered out. The articles were cited 18,790 times, with an annual average of 188 citations (122–507). Forty-two journals published these articles, with Molecular Genetics and Metabolism and Proceedings of the National Academy of Sciences of the United States being the most published journal (N = 8), followed by Pediatrics (N = 7), Blood (N = 6). The United States (N = 68), the UK (N = 25), and Germany (N = 20) were the top contributing countries. The Royal Manchester Children’s Hospital (N = 20) and the University of North Carolina (N = 18) were the most contributing institutions. Muenzer J was the most prolific author (N = 14).Conclusion: We conducted a bibliometric and visual analysis of the top 100 cited articles in MPS. This study identifies the most influential articles currently available in the field of MPS, which provides a good basis for a better understanding of the disease and informs future research directions.

中文翻译：

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关于粘多糖病被引用最多的 100 篇文章：文献计量分析

背景：文献计量学可以追踪特定领域的一般研究趋势。粘多糖病（MPS）作为一组罕见的遗传性疾病，严重影响患者及其家人的生活质量。学者们致力于研究MPS的发病机制和治疗方式，并发表了多篇论文。因此，我们对被引用率最高的 100 篇文章进行了文献计量和视觉研究，为研究人员提供该领域的研究现状和潜在方向的指示。 方法：在 Web of Science 核心合集中搜索 MPS 上的文章从1900年1月1日到2023年11月8日，筛选了被引用次数最多的前100篇文章。使用Microsoft Excel 2007提取文章标题、发表年份、机构、国家和第一作者进行统计分析。使用VOSviewer 1.6.16分析关键词共现和协作网络。结果：共检索到9,273篇文章。检索，并筛选出被引用次数最多的前 100 篇文章。文章被引用18,790次，年均被引用188次（122-507）。 42 种期刊发表了这些文章，其中 Molecular Genetics and Metabolism 和 Proceedings of the National Academy of Sciences of the United States 是发表最多的期刊 (N = 8)，其次是 Pediatrics (N = 7)、Blood (N = 6) ）。美国 (N = 68)、英国 (N = 25) 和德国 (N = 20) 是贡献最多的国家。皇家曼彻斯特儿童医院（N = 20）和北卡罗来纳大学（N = 18）是捐款最多的机构。 Muenzer J 是最多产的作者 (N = 14)。结论：我们对 MPS 中引用最多的 100 篇文章进行了文献计量和可视化分析。这项研究确定了目前 MPS 领域最有影响力的文章，为更好地了解该疾病提供了良好的基础，并为未来的研究方向提供了信息。