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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.
Savolainen, Markku J; Karlsson, Antti; Rohkimainen, Samppa; Toppila, Iiro; Lassenius, Mariann I; Falconi, Carlos Vaca; Uusi-Rauva, Kristiina; Elomaa, Kaisa.
Affiliation
  • Savolainen MJ; Oulu University Hospital, PO Box 10, 90029 OYS, Oulu, Finland.
  • Karlsson A; Auria Biobank, Turku University Hospital, University of Turku, PO Box 52, 20521 Turku, Finland.
  • Rohkimainen S; Biobank Borealis of Northern Finland, PO Box 50, 90029 OYS, Oulu, Finland.
  • Toppila I; Medaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
  • Lassenius MI; Medaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
  • Falconi CV; Takeda Pharma AB, Vasagatan 7, 11120 Stockholm, Sweden.
  • Uusi-Rauva K; Medaffcon Oy, Tietäjäntie 2, 02130 Espoo, Finland.
  • Elomaa K; Takeda Oy, Ilmalantori 1, 00101 Helsinki, Finland.
Mol Genet Metab Rep ; 27: 100725, 2021 Jun.
Article in En | MEDLINE | ID: mdl-33604241
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Full text: 1 Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Language: En Journal: Mol Genet Metab Rep Year: 2021 Type: Article Affiliation country: Finland
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Full text: 1 Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Language: En Journal: Mol Genet Metab Rep Year: 2021 Type: Article Affiliation country: Finland