Treffer: Global trends in sitosterolemia research: A bibliometric and visualization analysis.

• Utilize CiteSpace software for bibliometric analysis, an excellent Java-based tool that can visualize the relationships among documents in the form of a scientific knowledge map and explore the potential knowledge within academic literature. • Comprehensively and deeply reveal the research status and trends. • Global sitosterolemia research trends (1974-2024) analyzed via bibliometrics, identifying 416 key publications. • Emphasize the cooperative characteristics and potential value of the research. • Genetic mutations in ABCG5/ABCG8 confirmed as central to sitosterolemia pathogenesis. Sitosterolemia is a rare autosomal recessive genetic lipid metabolism disorder characterized by high concentrations of plant sterols in plasma and tissues, which can cause a variety of clinical symptoms, such as xanthomatosis, atherosclerosis, and arthritis. In recent years, more and more scholars have begun to pay attention to the special disease of sitosterolemia. Bibliometric analysis, as a method of quantitative analysis of scientific literature, can help us systematically understand the research status and development trends in this field. In this study, CiteSpace software was used to analyze the literature on sitosterolemia. Publications on sitosterolemia were collected from the Web of Science Core Collection (WOSCC) and PubMed. The bibliometric tools CiteSpace software and Microsoft Excel were used to identify the historical features, the evolution of active topics, and emerging trends in the sitosterolemia field. A total of 885 publications were retrieved and 416 publications were included in the analysis after the removal of duplicates. From 1974 to 2024, the number of publications and the related citations show an obvious fluctuating trend. The top 3 institutions with the most publications were the University of Bonn, the University of Texas System, and the University of Texas Southwestern Medical Center Dallas; the top 3 authors with the most publications were Patel SB, Tada H, and Salen G. The research hotspots on sitosterolemia mainly focus on phytosterols, whole exome sequencing, and lipid metabolism. The top 5 keywords by frequency of occurrence were "sitosterolemia," "humans," "dietary-cholesterol," "cholesterol," and "absorption." There is extensive scientific research cooperation among the sitosterolemia research institutions. Genetic research remains an important and ongoing area of interest in the study of sitosterolemia, given the fundamental role of genetic mutations in the disease's pathogenesis. The findings based on the bibliometric studies provide the current status and trends in sitosterolemia research and may help researchers identify hot topics and explore new research directions in this field. [ABSTRACT FROM AUTHOR]