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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Detalles Bibliográficos
Autores principales: Pehrsson, Minja, Heikkinen, Hanna, Wartiovaara-Kautto, Ulla, Mäntylahti, Sampo, Bäckström, Pia, Lassenius, Mariann I., Uusi-Rauva, Kristiina, Carpén, Olli, Elomaa, Kaisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9449642/
https://www.ncbi.nlm.nih.gov/pubmed/36092251
http://dx.doi.org/10.1016/j.ymgmr.2022.100911

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