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

2.50
Hdl Handle:
http://hdl.handle.net/10033/620869
Title:
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.
Authors:
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
Abstract:
Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.
Affiliation:
Helmholtz Centre for infection research, Inhoffenstr. 7, 38124 Braunschweig, Germany.
Citation:
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. 2017, 12 (2):e0172532 PLoS ONE
Journal:
PloS one
Issue Date:
2017
URI:
http://hdl.handle.net/10033/620869
DOI:
10.1371/journal.pone.0172532
PubMed ID:
28234950
Type:
Article
Language:
en
ISSN:
1932-6203
Appears in Collections:
publications of the research group cellular proteom research (CPRO)

Full metadata record

DC FieldValue Language
dc.contributor.authorBlöß, Susanneen
dc.contributor.authorKlemann, Christianen
dc.contributor.authorRother, Ann-Katrinen
dc.contributor.authorMehmecke, Sandraen
dc.contributor.authorSchumacher, Ulrikeen
dc.contributor.authorMücke, Ursen
dc.contributor.authorMücke, Martinen
dc.contributor.authorStieber, Christianeen
dc.contributor.authorKlawonn, Franken
dc.contributor.authorKortum, Xiaoweien
dc.contributor.authorLechner, Werneren
dc.contributor.authorGrigull, Lorenzen
dc.date.accessioned2017-03-24T10:22:46Z-
dc.date.available2017-03-24T10:22:46Z-
dc.date.issued2017-
dc.identifier.citationDiagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. 2017, 12 (2):e0172532 PLoS ONEen
dc.identifier.issn1932-6203-
dc.identifier.pmid28234950-
dc.identifier.doi10.1371/journal.pone.0172532-
dc.identifier.urihttp://hdl.handle.net/10033/620869-
dc.description.abstractWorldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.en
dc.language.isoenen
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.titleDiagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.en
dc.typeArticleen
dc.contributor.departmentHelmholtz Centre for infection research, Inhoffenstr. 7, 38124 Braunschweig, Germany.en
dc.identifier.journalPloS oneen

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