Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States

Autor: Amanda Wilson, Alexandra Chiorean, Mario Aguiar, Davorka Sekulic, Patrick Pavlick, Neha Shah, Lisa Sniderman King, Marie Génin, Mélissa Rollot, Margot Blanchon, Simon Gosset, Martin Montmerle, Cliona Molony, Alexandra Dumitriu

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)

Abstract Background Early diagnosis of Gaucher disease (GD) allows for disease-specific treatment before significant symptoms arise, preventing/delaying onset of complications. Yet, many endure years-long diagnostic odysseys. We report the developmen

Externí odkaz: https://doaj.org/article/cf3fc5e241db43cc80e829e8b825b578

Rationale and methodology for a European pooled analysis of postmarketing interventional and observational studies of insulin glargine 300 U/mL in diabetes: protocol of REALI project

Autor: Riccardo C. Bonadonna, Didac Mauricio, Dirk Mueller-Wieland, Mireille Bonnemaire, Nick Freemantle, Celine Mauquoi, Gregory Bigot, Alice Ciocca, Pierre Gourdy, Mélissa Rollot

Publikováno v: BMJ Open
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
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r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau

IntroductionType 2 diabetes mellitus (T2DM) is a common and heterogeneous disease. Using advanced analytic approaches to explore real-world data may identify different disease characteristics, responses to treatment and progression patterns. Insulin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3163f90404e3259a37f6bb1ba805a9d
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5009