Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey (Q36289696)

13 August 2017

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

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13 August 2017

1 reference

Christian Klemann

2

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Frank Klawonn

9

object named as

Frank Klawonn

1 reference

13 August 2017

Susanne Blöß

1

1 reference

13 August 2017

Ann-Katrin Rother

3

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13 August 2017

Sandra Mehmecke

4

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13 August 2017

Ulrike Schumacher

5

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13 August 2017

Urs Mücke

6

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13 August 2017

Martin Mücke

7

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13 August 2017

Christiane Stieber

8

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13 August 2017

Xiaowei Kortum

10

1 reference

13 August 2017

Werner Lechner

11

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13 August 2017

Lorenz Grigull

12

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13 August 2017

language of work or name

English

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publication date

24 February 2017

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13 August 2017

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13 August 2017

12

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13 August 2017

2

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13 August 2017

e0172532

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Creative Commons Attribution 4.0 International

13 August 2017

start time

24 February 2017

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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Diagnostic Support for Selected Paediatric Pulmonary Diseases Using Answer-Pattern Recognition in Questionnaires Based on Combined Data Mining Applications--A Monocentric Observational Pilot Study

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Adolescent presentations of inborn errors of metabolism

30 September 2017

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Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

30 September 2017

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The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

30 September 2017

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A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency

30 September 2017

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Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits

30 September 2017

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A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

30 September 2017

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Diagnosing primary immunodeficiency: a practical approach for the non-immunologist

30 September 2017

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Overcoming the barriers to diagnosis of Morquio A syndrome

30 September 2017

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Consensus-based recommendations for investigating clinical heterogeneity in systematic reviews

30 September 2017

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Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012

30 September 2017

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A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

30 September 2017

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Joint hypermobility syndrome pain

30 September 2017

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Rare and unusual ... or are they? Less commonly diagnosed encephalopathies associated with systemic disease

30 September 2017

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Networking for rare diseases: a necessity for Europe

30 September 2017

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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

30 September 2017

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Primary antibody deficiency and diagnostic delay

30 September 2017

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Primary ciliary dyskinesia: age at diagnosis and symptom history

30 September 2017

1 reference

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A critical review of the Delphi technique as a research methodology for nursing

30 September 2017

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The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community

30 September 2017

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Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study

29 June 2018

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Common variable immunodeficiency: clinical and immunological features of 248 patients.

22 September 2018

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Primary ciliary dyskinesia: diagnosis and standards of care

22 September 2018

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Primary ciliary dyskinesia

22 September 2018

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12 December 2020

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

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12 December 2020

Premature diagnostic closure: an avoidable type of error

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12 December 2020

Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience

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12 December 2020

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry

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ACROSCORE: a new and simple tool for the diagnosis of acromegaly, a rare and underdiagnosed disease

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0172532

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

28234950

1 reference