Rare Diseases Epidemiology

Editors:

ISBN: 978-90-481-9484-1 (Print) 978-90-481-9485-8 (Online)

Table of contents (28 chapters)

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  1. Front Matter

    Pages i-xxii

  2. Rare Diseases

    1. Front Matter

      Pages 1-1

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      Chapter

      Pages 3-14

      Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data

  3. Methods and Approaches

    1. Front Matter

      Pages 15-15

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      Chapter

      Pages 17-39

      Rare Diseases Epidemiology Research

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      Chapter

      Pages 41-53

      Evidence-Based Medicine and Rare Diseases

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      Chapter

      Pages 55-75

      Prevention, Diagnosis and Services

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      Chapter

      Pages 77-86

      The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases

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      Chapter

      Pages 87-104

      Patient Registries: Utility, Validity and Inference

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      Chapter

      Pages 105-113

      Biobanking in Rare Disorders

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      Chapter

      Pages 115-131

      Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases

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      Chapter

      Pages 133-150

      Population-Based Surveillance for Rare Congenital and Inherited Disorders: Models and Challenges

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      Chapter

      Pages 151-171

      Statistical Methods for the Geographical Analysis of Rare Diseases

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      Chapter

      Pages 173-190

      Clinical Trials and Rare Diseases

  4. Pharmacoepidemiology

    1. Front Matter

      Pages 191-191

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      Chapter

      Pages 193-207

      A Regulatory Overview About Rare Diseases

  5. Economics and Social Epidemiology

    1. Front Matter

      Pages 209-209

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      Chapter

      Pages 211-222

      Economic Considerations in the Provision of Treatments for Rare Diseases

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      Chapter

      Pages 223-250

      Rare Diseases Social Epidemiology: Analysis of Inequalities

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      Chapter

      Pages 251-272

      Quality of Life and Rare Diseases

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      Chapter

      Pages 273-282

      Cost of Illness and Economic Evaluation in Rare Diseases

  6. Epidemiology of Group of Rare Diseases

    1. Front Matter

      Pages 283-283

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      Chapter

      Pages 285-303

      The Burden of Rare Cancers in Europe

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      Chapter

      Pages 305-334

      Hereditary Channelopathies in Neurology

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      Chapter

      Pages 335-348

      Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva

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      Chapter

      Pages 349-364

      The Prevalence of Congenital Anomalies in Europe

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