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Rare Diseases Epidemiology: Update and Overview
other
Editor(s):
Manuel Posada de la Paz
,
Domenica Taruscio
,
Stephen C. Groft
Publication date
(Print):
2017
Publisher:
Springer International Publishing
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Genes & Diseases
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Book
ISBN (Print):
978-3-319-67142-0
ISBN (Electronic):
978-3-319-67144-4
Publication date (Print):
2017
DOI:
10.1007/978-3-319-67144-4
SO-VID:
932f0d74-b60f-4f7d-848e-8d0f9b496cc9
License:
http://www.springer.com/tdm
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Book chapters
pp. 3
Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data
pp. 39
Intellectual Disability & Rare Disorders: A Diagnostic Challenge
pp. 55
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
pp. 97
Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease
pp. 125
Facilitating Clinical Studies in Rare Diseases
pp. 141
Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER
pp. 149
Data Quality in Rare Diseases Registries
pp. 183
Incentivizing Orphan Product Development: United States Food and Drug Administration Orphan Incentive Programs
pp. 197
Post-approval Studies for Rare Disease Treatments and Orphan Drugs
pp. 207
Evidence-Based Medicine and Rare Diseases
pp. 221
Health Technology Assessment and Appraisal of Therapies for Rare Diseases
pp. 233
New Therapeutic Uses for Existing Drugs
pp. 249
Patient Empowerment and Involvement in Research
pp. 267
Cost-Effectiveness Methods and Newborn Screening Assessment
pp. 283
Cost-of-Illness in Rare Diseases
pp. 301
Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases
pp. 323
Newborn Screening: Beyond the Spot
pp. 349
A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
pp. 371
Prospects of Pluripotent and Adult Stem Cells for Rare Diseases
pp. 405
Microphysiological Systems (Tissue Chips) and their Utility for Rare Disease Research
pp. 419
Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge
pp. 443
Rare Neurodegenerative Diseases: Clinical and Genetic Update
pp. 497
Immunological Rare Diseases
pp. 511
Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity
pp. 535
Congenital Anomalies: Cluster Detection and Investigation
pp. 561
The European Union Policy in the Field of Rare Diseases
pp. 589
The Role of Solidarity(-ies) in Rare Diseases Research
pp. 605
Bridging the Gap between Health and Social Care for Rare Diseases: Key Issues and Innovative Solutions
pp. 629
Health Systems Sustainability and Rare Diseases
pp. 641
Preparing for the Future of Rare Diseases
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