Background and objective: To analyze the Spanish scientific production in a group of rare diseases selected during the period 1990-2000.
Material and method: Analysis of the following disease groups: congenital anomalies, metabolism inborn errors and primary immunodeficiencies. Bibliometric tools were used to assess and analyze the evolution of research in this area. The MEDLINE database was utilized for references search.
Results: Total references recovered for the study were 2978: 82.5% original articles and 17.3% reviews. The number of authors was 14,752 and the mean author/article was 4.9%. Seven types of institutions were coded with hospitals being the most productive with 78% of articles published. The Bradford nucleus was formed by 1,288 articles and 43.2% of the total had been published in 12 journals (2.1%).
Conclusions: Despite rare diseases research is still scarce, important efforts have been made at a national level focused on the development and strengthening of research in this field. Nevertheless, it is necessary to join efforts in this field to facilitate an appropriate research policy making that may help improve the current status.