目的 对精准医学在甲基丙二酸血症中的应用进行总结,并探讨未来可能的研究热点.方法 本研究选取了近19年发表的关于精准医学在甲基丙二酸血症中应用情况的文章,数据来源为Web of Science核心数据库.本研究采用了 CiteSpace(6.1.R6)、VOSviewer(1.6.18)和文献计量在线分析平台的方法,对该领域的国家、作者、期刊、参考文献和关键词进行合著分析、共被引分析和共现分析.结果 本研究一共分析了 555篇文章.发文最多的国家是美国(168篇),发文最多的作者是Rosenblatt(42篇,HI=54),Banerjee的HI最高,为57,但作者之间合作不紧密.被引用和共被引最多的杂志是《遗传代谢疾病》.所有关键词可分为4类:出生缺陷和诊断、有机酸代谢物、遗传鉴定和甲基丙二酸血症发病机制.结论 研究者们有必要加强科学合作.近年研究主要集中在新生儿筛查、有机酸尿、同型半胱氨酸尿、表型、cblC型、产前诊断和指南,这可能是未来的研究热点.
The global trend of precision medicine in methylmalonic acidemia:A bibliometric analysis
Objective To summarize the application of precision medicine in methylmalonic acidemia and then ex-plore potential future research hotspots.Methods The articles and reviews regarding application of precision medicine in me-thylmalonic acidemia between 2004 and 2022 were selected from Web of Science core collection.CiteSpace 6.1.R6,VOS-viewer(1.6.18),and an online bibliometric analysis platform were used to conduct co-authorship,co-citation,and co-occurrence analysis of countries,authors,journals,references,and keywords in this field.Results A total of 555 publica-tions were analyzed.The most productive country was USA(168 papers).Rosenblatt was the most productive author(42 pub-lications,HI=54).In addition,Banerjee achieved the highest HI of 57.However,there was little collaboration among the au-thors.The most cited and co-cited journal is Journal of Inherited Metabolic Disease.All keywords were described in four clusters:Inborn errors and diagnosis,organic acid metabolites,genetic identification,and the mechanism of MMA.Conclu-sion It is necessary to increase the scientific collaboration.Research in recent years has focused on newborn screening,organic aciduria,homocystinuria,phenotype,cblC,prenatal diagnosis,and guideline.That will probably be the research hotspot in the future.
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