Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study

INTRODUCTION: This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rare Diseases Framework highlights as a key priority...

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Detalles Bibliográficos
Autores principales: Buendia, Orlando, Shankar, Sneha, Mahon, Hadley, Toal, Connor, Menzies, Lara, Ravichandran, Pradeep, Roper, Jane, Takhar, Jag, Benfredj, Rudy, Evans, Will
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8848904/
https://www.ncbi.nlm.nih.gov/pubmed/35172857
http://dx.doi.org/10.1186/s13023-022-02216-w

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