Orphanet Journal of Rare Diseases
BioMed Central Ltd · United Kingdom · Est. 1965
Aims & Scope✦ Inferred from recent articles
The Orphanet Journal of Rare Diseases publishes research on rare diseases, focusing on their diagnosis, clinical manifestations, genetic underpinnings, and therapeutic strategies. Articles investigate specific rare conditions such as Fabry disease, infantile myofibromatosis, Wilson's disease, epidermolysis bullosa, hereditary angioedema, phenylketonuria, and congenital aniridia. The journal also addresses broader issues related to rare diseases, including diagnostic challenges, health inequities, quality of life for patients and families, and the development of clinical trial networks and orphan drug policies.
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