Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks

Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks

Background: Autosomal recessive Gaucher disease (GD) is likely underdiagnosed in many countries. Because the number of diagnosed GD patients in Finland is relatively low, and the true prevalence is currently not known, it was hypothesized that undiagnosed GD patients may exist in Finland. Our previo...

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Bibliographic Details
Main Authors: Minja Pehrsson, Hanna Heikkinen, Ulla Wartiovaara-Kautto, Sampo Mäntylahti, Pia Bäckström, Mariann I. Lassenius, Kristiina Uusi-Rauva, Olli Carpén, Kaisa Elomaa
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Biobank study
Electronic health record data
Small nucleotide polymorphism chip genotype data
Gaucher disease
Gaucher earlier diagnosis consensus point-scoring system
GBA
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000714

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http://www.sciencedirect.com/science/article/pii/S2214426922000714

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