Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023)

dc.contributor.authorYilmaz, Banu Kadioglu
dc.contributor.authorAkgul, Ayse Huemeyra
dc.date.accessioned2024-02-23T14:35:07Z
dc.date.available2024-02-23T14:35:07Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractBibliometric studies on inherited metabolic diseases (IMDs) do not exist in the literature. Therefore, our research aims to conduct a bibliometric study to determine the current status, trending topics, and missing points of publications on IMDs. Between 1968 and 2023, we conducted a literature search with the keyword inherited metabolic disease in the SCOPUS database. We included research articles in medicine written in English and published in the final section. We created our data pool using VOSviewer, SciMAT, and Rstudio software programs for the bibliometric parameters of the articles that met the inclusion criteria. We performed a bibliometric analysis of the data with the R package bibliometrix and BibExcel programs. We included 2702 research articles published on IMDs. The top three countries that have written the most articles in this field are the USA (n = 501), the United Kingdom (n = 182), and China (n = 172). The most preferred keywords by the authors were: newborn screening (n = 54), mutation (n = 43), phenylketonuria (n = 42), children (n = 35), genetics (n = 34), and maple syrup urine disease (n = 32). Trending topics were osteoporosis, computed tomography, bone marrow transplantation in the early years of the study, chronic kidney disease, urea cycle disorders, next-generation sequencing, newborn screening, and familial hypercholesterolemia in the final years of the study. This study provides clinicians with a new perspective, showing that molecular and genetic studies of inherited metabolic diseases will play an essential role in diagnosis and treatment in the future.en_US
dc.identifier.doi10.3390/children10071205
dc.identifier.issn2227-9067
dc.identifier.issue7en_US
dc.identifier.pmid37508702en_US
dc.identifier.scopus2-s2.0-85170109926en_US
dc.identifier.urihttps://doi.org/10.3390/children10071205
dc.identifier.urihttps://hdl.handle.net/20.500.12452/15888
dc.identifier.volume10en_US
dc.identifier.wosWOS:001035208300001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMdpien_US
dc.relation.ispartofChildren-Baselen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInherited Metabolic Diseaseen_US
dc.subjectBibliometric Studyen_US
dc.subjectNewborn Screeningen_US
dc.subjectGene Therapyen_US
dc.subjectMetabolomicsen_US
dc.subjectMolecular Genetic Analysisen_US
dc.subjectPhenylketonuriaen_US
dc.titleInherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023)en_US
dc.typeArticleen_US

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