The Challenge of Rare Diseases
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine,Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine
Reference27 articles.
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3. Detection of alpha-1 antitrypsin deficiency: a review;Aboussouan;Respir Med,2009
4. The challenge of detecting alpha-1 antitrypsin deficiency;Stoller;COPD,2013
5. Alpha1-antitrypsin deficiency. 1: Epidemiology of alpha1-antitrypsin deficiency;Luisetti;Thorax,2004
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2. A scoping review of health literacy in rare disorders: key issues and research directions;Orphanet Journal of Rare Diseases;2024-09-06
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4. How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned;Orphanet Journal of Rare Diseases;2024-08-14
5. The importance of genetic counselling for turner syndrome transition;European Child & Adolescent Psychiatry;2024-08-08
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