Scopus
🔓 Açık Erişim YÖKSİS Eşleşti
Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
Children · Temmuz 2023
YÖKSİS Kayıtları
Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968–2023)
Children-Basel · 2023 SCI-Expanded
DOKTOR ÖĞRETİM ÜYESİ BANU KADIOĞLU YILMAZ →
Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023)
CHILDREN-BASEL · 2023 SCI
DOKTOR ÖĞRETİM ÜYESİ BANU KADIOĞLU YILMAZ →
Makale Bilgileri
DergiChildren
Yayın TarihiTemmuz 2023
Cilt / Sayfa10
Scopus ID2-s2.0-85170109926
Erişim🔓 Açık Erişim
Özet
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.
Yazarlar (2)
1
Banu Kadıoğlu Yılmaz
2
Ayşe Hümeyra Akgül
ORCID: 0009-0000-7533-4855
Anahtar Kelimeler
bibliometric study
gene therapy
inherited metabolic disease
metabolomics
molecular genetic analysis
newborn screening
phenylketonuria
Kurumlar
Necmettin Erbakan Üniversitesi
Meram Turkey
Selçuk Tip Fakültesi
Konya Turkey