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Literature DB >> 29700025

Dare to think rare: diagnostic delay and rare diseases.

William Rh Evans¹.

Abstract

Mesh：

Year: 2018 PMID： 29700025 PMCID： PMC5916061 DOI： 10.3399/bjgp18X695957

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

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3 in total

Review 1. 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

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

Review 3. 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

3 in total

9 in total

1. The stable rower: identifying a rare disease.

Authors: Tim Badcock
Journal: Br J Gen Pract Date: 2019-02 Impact factor: 5.386

Review 2. The case for open science: rare diseases.

Authors: Yaffa R Rubinstein; Peter N Robinson; William A Gahl; Paul Avillach; Gareth Baynam; Helene Cederroth; Rebecca M Goodwin; Stephen C Groft; Mats G Hansson; Nomi L Harris; Vojtech Huser; Deborah Mascalzoni; Julie A McMurry; Matthew Might; Christoffer Nellaker; Barend Mons; Dina N Paltoo; Jonathan Pevsner; Manuel Posada; Alison P Rockett-Frase; Marco Roos; Tamar B Rubinstein; Domenica Taruscio; Esther van Enckevort; Melissa A Haendel
Journal: JAMIA Open Date: 2020-09-11

3. Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy.

Authors: Marco Carbone; Yllka Kodra; Adele Rocchetti; Valerio Manno; Giada Minelli; Alessio Gerussi; Vincenzo Ronca; Federica Malinverno; Laura Cristoferi; Annarosa Floreani; Pietro Invernizzi; Susanna Conti; Domenica Taruscio
Journal: Int J Environ Res Public Health Date: 2020-04-29 Impact factor: 3.390

Review 4. Educational aspects of rare and orphan lung diseases.

Authors: Tiago M Alfaro; Marlies S Wijsenbeek; Pippa Powell; Daiana Stolz; John R Hurst; Michael Kreuter; Catharina C Moor
Journal: Respir Res Date: 2021-03-24

5. Physicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China.

Authors: Huanyu Zhang; Ying Xiao; Shu-Yang Zhang; Dong Dong; Xinyue Zhao; Zhuang Tian
Journal: Orphanet J Rare Dis Date: 2022-03-05 Impact factor: 4.123

Dare to think rare: diagnostic delay and rare diseases.

Review 1. Why rare diseases are an important medical and social issue.

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

Review 3. Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches.

1. The stable rower: identifying a rare disease.

Review 2. The case for open science: rare diseases.

3. Primary Sclerosing Cholangitis: Burden of Disease and Mortality Using Data from the National Rare Diseases Registry in Italy.

Review 4. Educational aspects of rare and orphan lung diseases.

5. Physicians' knowledge on specific rare diseases and its associated factors: a national cross-sectional study from China.

6. Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.

7. The Odyssey from Symptom to Diagnosis of Pulmonary Hypertension from the Patients and Spouses Perspective.

8. Knowledge and Associated Factors about Rare Diseases among Dentists in Israel: A Cross Sectional Survey.

9. Depression and Anxiety in Patients with Rare Diseases during the COVID-19 Pandemic.