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Literature DB >> 27789486

Rare diseases in general practice: recognising the zebras among the horses.

William Rh Evans¹, Imran Rafi².

Abstract

Entities: Species

Mesh：

Year: 2016 PMID： 27789486 PMCID： PMC5072891 DOI： 10.3399/bjgp16X687625

Source DB: PubMed Journal: Br J Gen Pract ISSN： 0960-1643 Impact factor: 5.386

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6 in total

1. Clinical competence and childhood cancer - a view from primary care.

Authors: Knut Holtedahl
Journal: Acta Paediatr Date: 2012-03-24 Impact factor: 2.299

Review 2. Why rare diseases are an important medical and social issue.

Authors: Arrigo Schieppati; Jan-Inge Henter; Erica Daina; Anita Aperia
Journal: Lancet Date: 2008-06-14 Impact factor: 79.321

3. A powerful team: the family physician advocating for patients with a rare disease.

Authors: Tracy Dudding-Byth
Journal: Aust Fam Physician Date: 2015-09

4. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction.

Authors: Karolina Budych; Thomas M Helms; Carsten Schultz
Journal: Health Policy Date: 2012-03-29 Impact factor: 2.980

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

Authors: Machtelt G Bouwman; Quirine G A Teunissen; Frits A Wijburg; Gabor E Linthorst
Journal: Arch Dis Child Date: 2010-04-23 Impact factor: 3.791

Review 6. Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.

Authors: Dan Svenstrup; Henrik L Jørgensen; Ole Winther
Journal: Rare Dis Date: 2015-09-16

6 in total

16 in total

1. Genomics in routine clinical care: what does this mean for primary care?

Authors: Judith Hayward; Michelle Bishop; Imran Rafi; Val Davison
Journal: Br J Gen Pract Date: 2017-02 Impact factor: 5.386

2. Preventing gatekeeping delays in the diagnosis of rare diseases.

Authors: Esther de Vries; Lisa Fransen; Marlon van den Aker; Bert R Meijboom
Journal: Br J Gen Pract Date: 2018-03 Impact factor: 5.386

3. Learning to Identify Rare Disease Patients from Electronic Health Records.

Authors: Rich Colbaugh; Kristin Glass; Christopher Rudolf; Mike Tremblay Volv Global Lausanne Switzerland
Journal: AMIA Annu Symp Proc Date: 2018-12-05

Review 4. Defining and characterising a toolkit for the development of a successful European registry for rare liver diseases: a model for building a rare disease registry.

Authors: Marinos Pericleous; Claire Kelly; Michael Schilsky; Anil Dhawan; Aftab Ala
Journal: Clin Med (Lond) Date: 2022-06-15 Impact factor: 5.410

Rare diseases in general practice: recognising the zebras among the horses.

1. Clinical competence and childhood cancer - a view from primary care.

Review 2. Why rare diseases are an important medical and social issue.

3. A powerful team: the family physician advocating for patients with a rare disease.

4. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interaction.

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

Review 6. Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.

1. Genomics in routine clinical care: what does this mean for primary care?

2. Preventing gatekeeping delays in the diagnosis of rare diseases.

3. Learning to Identify Rare Disease Patients from Electronic Health Records.

Review 4. Defining and characterising a toolkit for the development of a successful European registry for rare liver diseases: a model for building a rare disease registry.

5. Needs assessment study of rare diseases education for nurses and nursing students in Poland.

6. Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.

7. [An online dynamic knowledge base in multiple languages on general medicine and primary care].

8. Evaluation of a clinical decision support system for rare diseases: a qualitative study.

9. Education and information needs for physicians about rare diseases in Spain.

Review 10. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.