Bibliometric data of 901 retrieved articles on the topic Methods Used for Lysosomal Storage Diseases Screening Assays.pdf

Direct enzyme activity analysis using tandem mass spectrometry (MS/MS), fluorometry, or immunoassays, as well as biomarker measurements are currently available techniques for screening for lysosomal storage diseases (LSDs). The presented study aims to provide a bibliometric analysis of the published literature on methods used for LSD screening assays and to identify future research trends in this field. We performed a systematic search for articles in the Web of Science Core Collection (WoS CC), covering the period 1982 to 2024 (June). A total of 901 articles written by 5303 authors, published in 389 journals, with 24,934 citations in 15,256 citing articles, with an average citation rate of 27.67 per article and an h-index of 78 were retrieved from WoS CC. The indicators presented in the article describe the network structure of the scientific community in the study area at the level of countries, institutions, authors, articles, sources, and keywords, as well as evaluate their productivity, collaboration, and citations. The most relevant current and future areas of interest were identified: “development of more accurate, sensitive, reliable and accessible tests”, “increasing the use of next-generation sequencing”, “ethical issues related to LSD screening”, “metabolomic and proteomic approaches” and “pathogenic variants of LSD genotypes”.