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

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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Bibliographic Details
Main Authors: Markku J. Savolainen, Antti Karlsson, Samppa Rohkimainen, Iiro Toppila, Mariann I. Lassenius, Carlos Vaca Falconi, Kristiina Uusi-Rauva, Kaisa Elomaa
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Biobank study
Electronic health record
Gaucher disease
Gaucher earlier diagnosis consensus point-scoring system
GBA
Lyso-Gb1
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000197

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http://www.sciencedirect.com/science/article/pii/S2214426921000197

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