Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey

Author:

Blöß Susanne,Klemann Christian,Rother Ann-Katrin,Mehmecke Sandra,Schumacher Ulrike,Mücke Urs,Mücke Martin,Stieber Christiane,Klawonn Frank,Kortum Xiaowei,Lechner Werner,Grigull Lorenz

Funder

Robert Bosch Stiftung

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference34 articles.

1. Networking for rare diseases: a necessity for Europe;S Aymé;Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz,2007

2. Limb L, Nutt S, Sen A. Experiences of rare diseases: an insight from patients and families. 2010. http://www.raredisease.org.uk/documents/RDUK-Family-Report.pdf. Accessed 11 Nov 2015https://www.raredisease.org.uk/media/1594/rduk-family-report.pdf.

3. Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study;N Guffon;Orphanet J Rare Dis,2015

4. Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits;RT Wang;PLoS Curr,2014

5. A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study;P Pierucci;Orphanet J Rare Dis,2012

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