The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland

BACKGROUND: Gaucher disease (GD) is a rare inherited multiorgan disorder, yet a diagnosis can be significantly delayed due to a broad spectrum of symptoms and lack of disease awareness. Recently, the prototype of a GD point-scoring system (PSS) was established by the Gaucher Earlier Diagnosis Consen...

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Detalles Bibliográficos
Autores principales: Savolainen, Markku J., Karlsson, Antti, Rohkimainen, Samppa, Toppila, Iiro, Lassenius, Mariann I., Falconi, Carlos Vaca, Uusi-Rauva, Kristiina, Elomaa, Kaisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7875822/
https://www.ncbi.nlm.nih.gov/pubmed/33604241
http://dx.doi.org/10.1016/j.ymgmr.2021.100725

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