Open access peer-reviewed Edited Volume

Rare Diseases

Edited by Zhan He Wu

University of Sydney

Rare diseases are a group of genetic disorders occurring in a small percentage of the population with the conditions being chronic but incurable. Approximately 7000 to 8000 different types have been identified and about 350 million people globally are affected in childhood and adulthood, resulting in enormous physical, mental, and psychological suffering and financial burden. It is imperative for medical scientists, clinicians, communities, and societies to ensure appropriate care is applied to ease the suffering of such patients. The extraordinary and unprecedented hallmark in the field of rare diseases has revolutionized modern human medicine with exciting and advancing developments of the genomic era over the last two decades. Patients with rare diseases have been receiving increasing benefits in care and life quality improvements than ever before. This book intends to share and exchange the advancing knowledge and experiences from the authors, who have the necessary expertise within the various topics and subjects in the research, diagnosis, and management of rare diseases. It is hoped they are able to provide further benefits to patients and families with the development of early and accurate diagnosis and effective therapies.

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Rare DiseasesEdited by Zhan He Wu

Published: March 25th 2020

DOI: 10.5772/intechopen.83131

ISBN: 978-1-83880-024-6

Print ISBN: 978-1-83880-023-9

eBook (PDF) ISBN: 978-1-83880-459-6

Copyright year: 2020

Books open for chapter submissions

3634 Total Chapter Downloads

1 Crossref Citations

1 Dimensions Citations

chaptersDownloads

Open access peer-reviewed

1. Introductory Chapter: Advances in the Diagnosis and Management of Rare Diseases

By Zhan He Wu

168

Open access peer-reviewed

2. Duchenne Muscular Dystrophy (DMD) Diagnosis: Past and Present Perspectives

By Nahla O. Mousa, Ahmed Osman, Nagia Fahmy, Ahmed Abdellatif, Suher Zada and Hassan El-Fawal

218

Open access peer-reviewed

3. Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities

By Long Hoa Chung and Yanfei Qi

208

Open access peer-reviewed

4. Bilateral Abductor Palsy in Neonates

By Bigyan Raj Gyawali

244

Open access peer-reviewed

5. Primary Immunodeficiency

By Renfen Chen

544

Open access peer-reviewed

6. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)

By Carmine Ungaro and Teresa Sprovieri

214

Open access peer-reviewed

7. The Research Progress of Monogenic Inherited Hypertension

By Wenxiu Liu and Xinhua Yin

228

Open access peer-reviewed

8. The Rare Anaemias

By Joan-Lluis Vives-Corrons

305

Open access peer-reviewed

9. Milestone Histories and Paradigmatic Genetic Discoveries of Chronic Myeloid Leukemia (CML)

By Zhan He Wu

185

Open access peer-reviewed

10. Chronic Myeloid Leukemia

By Letícia Antunes Muniz Ferreira

245

Open access peer-reviewed

11. Rare Disease Advocacy Groups and Their Significance in Diagnosis, Management, Treatment, and Prevention of Rare Diseases

By Yashodhara Bhattacharya, Gayatri Iyer, Aruna Priya Kamireddy, Subhadra Poornima, Keerthi Konda Juturu and Qurratulain Hasan

172

Open access peer-reviewed

12. Pharmacotherapy of Rare Diseases in Serbia: The Current State of Art

By Branislava Medić Brkić, Bojan Stopić, Katarina Savić Vujović, Nevena Divac, Sonja Vučković, Radan Stojanović, Dragana Srebro, Miloš Basailović and Milica Prostran

163

Open access peer-reviewed

13. Suitable Molecular Genetic Methods for the Monitoring of Cell Chimerism

By Hana Cechova, Lucie Pavlatova, Monika Leontovycova and Milena Vrana

240

Open access peer-reviewed

14. Monitoring of Chimerism in Rare Haematological Malignant Diseases after Allogeneic Haematopoietic Stem Cell Transplantation

By Eva Hanusovska and Sabina Sufliarska

210

Open access peer-reviewed

15. International Data Sharing and Rare Disease: The Importance of Ethics and Patient Involvement

By Adrian Thorogood

294

Edited Volume and chapters are indexed in

  • Worldcat
  • OpenAIRE
  • Google Scholar
  • AZ ebsco
  • Base
  • CNKI

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