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The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

Abstract Background Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-based platforms offer privileged opportunities for biomedical data gathe...

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Principais autores: Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira, Vanessa dos Reis Ferreira
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2022-03-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Congenital Disorders of Glycosylation (CDG)
Rare diseases
People-centricity
Patient engagement
Patient empowerment
Patient recruitment
Online adgang:https://doi.org/10.1186/s13023-022-02286-w
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