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

Bibliometric 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 sear...

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Detalles Bibliográficos
Autores principales: Kadıoğlu Yılmaz, Banu, Akgül, Ayşe Hümeyra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378490/
https://www.ncbi.nlm.nih.gov/pubmed/37508702
http://dx.doi.org/10.3390/children10071205
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author Kadıoğlu Yılmaz, Banu
Akgül, Ayşe Hümeyra
author_facet Kadıoğlu Yılmaz, Banu
Akgül, Ayşe Hümeyra
author_sort Kadıoğlu Yılmaz, Banu
collection PubMed
description Bibliometric 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.
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spelling pubmed-103784902023-07-29 Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023) Kadıoğlu Yılmaz, Banu Akgül, Ayşe Hümeyra Children (Basel) Article Bibliometric 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. MDPI 2023-07-12 /pmc/articles/PMC10378490/ /pubmed/37508702 http://dx.doi.org/10.3390/children10071205 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kadıoğlu Yılmaz, Banu
Akgül, Ayşe Hümeyra
Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title_full Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title_fullStr Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title_full_unstemmed Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title_short Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
title_sort inherited metabolic diseases from past to present: a bibliometric analysis (1968–2023)
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378490/
https://www.ncbi.nlm.nih.gov/pubmed/37508702
http://dx.doi.org/10.3390/children10071205
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