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A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022).

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Title: A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022).
Authors: Hernández-García, Frank1,2,3 (AUTHOR) frankhernandezgarcia1996@gmail.com, Gil-Peña, Helena2,3,4 (AUTHOR), López, José M.3,5 (AUTHOR), Fuente, Rocío6 (AUTHOR), Oro Carbajosa, Patricia1,3 (AUTHOR), Corrales-Reyes, Ibraín Enrique7 (AUTHOR), Suárez, Julián Rodríguez1,2,3,4 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 11/18/2025, Vol. 20 Issue 1, p1-11. 11p.
Subject Terms: *HYPOPHOSPHATEMIA, *BIBLIOGRAPHIC databases, *UNIVERSITY research, *BIBLIOMETRICS, *HEREDITY, *SCHOLARLY publishing
Geographic Terms: UNITED States, UNITED Kingdom
Abstract: Background: Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life. The most common cause of hypophosphatemic rickets is genetic factors, such as X-linked hypophosphatemia. The evaluation of the scientific application of familial hypophosphataemic rickets aids in understanding the research landscape, identifying opportunities for improvement, and promoting significant advancements in the understanding and treatment of this medical condition. This study aimed to characterize the worldwide scientific production of articles on familial hypophosphatemic rickets indexed in Scopus, through the analysis of publication growth rate, leading countries and journals, international collaboration networks, and predominant research keywords. Methods: An observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the worldwide scientific production of familial hypophosphatemic rickets published in journals indexed in Scopus from 2000 to 2022. To retrieve the publications, Scopus was accessed on April 4, 2023, and an advanced search was performed using a filter by title, abstract and key words, source (journals), publication year, and type of article (article and review). The search terms used were extracted from the PubMed Medical Subject Headings (MeSH) related to the disease included in the MeSH catalog. Additionally, an analysis of co-occurrence between countries and keywords was carried out with VOSviewer software. Results: This study identified 1,269 articles on familial hypophosphatemic rickets (938 articles and 331 reviews). In total, 39,548 citations were received, with an H index of 95. The majority of the articles (76.9%) were published in high-impact journals according to quartile (Q), Q1 and Q2. Scientific production has shown a growing trend in recent years. The countries with the highest scientific production are the U.S., Japan, and the United Kingdom, considering that low- and middle-income countries contribute less to international scientific production. Among 1,858 author keywords, 109 met the inclusion threshold (≥ 6 occurrences) and were grouped into five thematic clusters related to genetics, treatment, pathophysiology, complications, and clinical manifestations. Recent research trends highlight increasing focus on burosumab, quality of life, and chronic complications in familial hypophosphatemic rickets. Conclusions: Scientific production has shown sustained growth in recent years. The U.S. solidifies itself as the country leading scientific production on familial hypophosphatemic rickets. [ABSTRACT FROM AUTHOR]
Database: Academic Search Index
Description
Abstract:Background: Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life. The most common cause of hypophosphatemic rickets is genetic factors, such as X-linked hypophosphatemia. The evaluation of the scientific application of familial hypophosphataemic rickets aids in understanding the research landscape, identifying opportunities for improvement, and promoting significant advancements in the understanding and treatment of this medical condition. This study aimed to characterize the worldwide scientific production of articles on familial hypophosphatemic rickets indexed in Scopus, through the analysis of publication growth rate, leading countries and journals, international collaboration networks, and predominant research keywords. Methods: An observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the worldwide scientific production of familial hypophosphatemic rickets published in journals indexed in Scopus from 2000 to 2022. To retrieve the publications, Scopus was accessed on April 4, 2023, and an advanced search was performed using a filter by title, abstract and key words, source (journals), publication year, and type of article (article and review). The search terms used were extracted from the PubMed Medical Subject Headings (MeSH) related to the disease included in the MeSH catalog. Additionally, an analysis of co-occurrence between countries and keywords was carried out with VOSviewer software. Results: This study identified 1,269 articles on familial hypophosphatemic rickets (938 articles and 331 reviews). In total, 39,548 citations were received, with an H index of 95. The majority of the articles (76.9%) were published in high-impact journals according to quartile (Q), Q1 and Q2. Scientific production has shown a growing trend in recent years. The countries with the highest scientific production are the U.S., Japan, and the United Kingdom, considering that low- and middle-income countries contribute less to international scientific production. Among 1,858 author keywords, 109 met the inclusion threshold (≥ 6 occurrences) and were grouped into five thematic clusters related to genetics, treatment, pathophysiology, complications, and clinical manifestations. Recent research trends highlight increasing focus on burosumab, quality of life, and chronic complications in familial hypophosphatemic rickets. Conclusions: Scientific production has shown sustained growth in recent years. The U.S. solidifies itself as the country leading scientific production on familial hypophosphatemic rickets. [ABSTRACT FROM AUTHOR]
ISSN:17501172
DOI:10.1186/s13023-025-04105-4