The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency-Reference-Cited by-同舟云学术

The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency

Published:2020-07-03 Issue:4 Volume:17 Page:346-354
ISSN:1541-2555
Container-title:COPD: Journal of Chronic Obstructive Pulmonary Disease
language:en
Short-container-title:COPD: Journal of Chronic Obstructive Pulmonary Disease

Author:

Miravitlles Marc¹²^ORCID,Nuñez Alexa¹²,Torres-Durán Maria³,Casas-Maldonado Francisco⁴,Rodríguez-Hermosa Juan Luis⁵,López-Campos José Luis²⁶^ORCID,Calle Myriam⁵,Rodríguez Esther¹²,Esquinas Cristina¹²,Barrecheguren Miriam¹²

Affiliation:

1. Pneumology Department, Hospital Universitari Vall d'Hebron; Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Barcelona Hospital Campus, Barcelona, Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, Madrid, Spain

3. Servicio de Neumología, Hospital Álvaro Cunqueiro. NeumoVigoI + i Research Group, IIS Galicia Sur, Vigo, Spain

4. Servicio de Neumología, Hospital Universitario San Cecilio, Departamento de Medicina, Facultad de Medicina, Universidad de Granada, Granada, Spain

5. Servicio de Neumología. Hospital Clínico de San Carlos, Departamento de Medicina, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain

6. Unidad Médico-Quirúrgica de Enfermedades Respiratorias. Instituto de Biomedicina de Sevilla (IBiS). Hospital Universitario Virgen del Rocío/Universidad de Sevilla, Sevilla, Spain

Publisher

Informa UK Limited

Subject

Pulmonary and Respiratory Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/15412555.2020.1795824

Reference82 articles.

1. European Commission Expert Group on Rare Diseases. 2014. https://ec.europa.eu/health/sites/health/files/rare_diseases/docs/ev_20140211_mi_en.pd; 11–12 February 2014. [Accessed 2020 Jun 19].

2. Public Law 107-280-NOV. 6, 2002. US Rare Diseases Act of 2002; 2002.

3. National Institutes of Health Office of Rare Diseases Research. 2020. http://rarediseases.info.nih.gov/Resources/Rare_Diseases_Information.aspx. [Accessed 2020 Jun 19].

4. Perspectives for improving the evaluation and access of therapies for rare lung diseases in Europe

5. Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery

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