Open access peer-reviewed Edited Volume

Advances in the Study of Genetic Disorders

Edited by Kenji Ikehara

The Open University of Japan, Japan

The studies on genetic disorders have been rapidly advancing in recent years as to be able to understand the reasons why genetic disorders are caused. The first Section of this volume provides readers with background and several methodologies for understanding genetic disorders. Genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders are reviewed in the second and third Sections. Certainly, it is quite difficult or almost impossible to cure a genetic disorder fundamentally at the present time. However, our knowledge of genetic functions has rapidly accumulated since the double-stranded structure of DNA was discovered by Watson and Crick in 1956. Therefore, nowadays it is possible to understand the reasons why genetic disorders are caused. It is probable that the knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.

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Advances in the Study of Genetic DisordersEdited by Kenji Ikehara

Published: November 21st 2011

DOI: 10.5772/745

ISBN: 978-953-307-305-7

eBook (PDF) ISBN: 978-953-51-6575-0

Copyright year: 2011

Books open for chapter submissions

100800 Total Chapter Downloads

17 Crossref Citations

38 Web of Science Citations

50 Dimensions Citations


Open access peer-reviewed

1. Origin of the Genetic Code and Genetic Disorder

By Kenji Ikehara


Open access peer-reviewed

2. Inbreeding and Genetic Disorder

By Gonzalo Alvarez, Celsa Quinteiro and Francisco C. Ceballos


Open access peer-reviewed

3. Cytogenetic Techniques in Diagnosing Genetic Disorders

By Kannan Thirumulu Ponnuraj


Open access peer-reviewed

4. Functional Interpretation of Omics Data by Profiling Genes and Diseases Using MeSH–Controlled Vocabulary

By Takeru Nakazato, Hidemasa Bono and Toshihisa Takagi


Open access peer-reviewed

5. Targeted Metabolomics for Clinical Biomarker Discovery in Multifactorial Diseases

By Ulrika Lundin, Robert Modre-Osprian and Klaus M. Weinberger


Open access peer-reviewed

6. Thalassemia Syndrome

By Tangvarasittichai Surapon


Open access peer-reviewed

7. Genomic Study in β-Thalassemia

By Saovaros Svasti, Orapan Sripichai, Manit Nuinoon, Pranee Winichagoon and Suthat Fucharoen


Open access peer-reviewed

8. HMG–CoA Lyase Deficiency

By Beatriz Puisac, María Arnedo, Ma Concepción Gil-Rodríguez, Esperanza Teresa, Angeles Pié, Gloria Bueno, Feliciano J. Ramos, Paulino Goméz-Puertas and Juan Pie


Open access peer-reviewed

9. Mitochondrial HMG–CoA Synthase Deficiency

By María Arnedo, Mónica Ramos, Beatriz Puisac, Ma Concepción Gil-Rodríguez, Esperanza Teresa, Ángeles Pié, Gloria Bueno, Feliciano J. Ramos, Paulino Gómez-Puertas and Juan Pie


Open access peer-reviewed

10. Alström Syndrome

By Cristina Maria Mihai, Jan D. Marshall and Ramona Mihaela Stoicescu


Open access peer-reviewed

11. Alpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder

By Michael Sjoding and D. Kyle Hogarth


Open access peer-reviewed

12. Tangier Disease

By Yoshinari Uehara, Bo Zhang and Keijiro Saku


Open access peer-reviewed

13. Fabry Disease: A Metabolic Proteinuric Nephropathy

By Jonay Poveda Nuñez, Alberto Ortiz, Ana Belen Sanz and Maria Dolores Sanchez Niño


Open access peer-reviewed

14. Fabry Cardiomyopathy: A Global View

By Rocio Toro Cebada, Alipio Magnas and Jose Luis Zamorano


Open access peer-reviewed

15. The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum

By Daniela Quaglino, Federica Boraldi, Giulia Annovi and Ivonne Ronchetti


Open access peer-reviewed

16. Peroxisomal Biogenesis: Genetic Disorders Reveal the Mechanisms

By Manuel J. Santos and Alfonso González


Open access peer-reviewed

17. Repair of Impaired Host Peroxisomal Properties Cropped Up Due to Visceral Leishmaniasis May Lead to Overcome Peroxisome Related Genetic Disorder Which May Develop Later After Treatment

By Salil C. Datta, Shreedhara Gupta and Bikramjit Raychaudhury


Open access peer-reviewed

18. Genetic Basis of Inherited Bone Marrow Failure Syndromes

By Yigal Dror


Open access peer-reviewed

19. Bernard Soulier Syndrome: A Genetic Bleeding Disorder

By Basma Hadjkacem, Jalel Gargouri and Ali Gargouri


Open access peer-reviewed

20. Prader–Willi Syndrome, from Molecular Testing and Clinical Study to Diagnostic Protocols

By Maria Puiu and Natalia Cucu


Open access peer-reviewed

21. Turner Syndrome and Sex Chromosomal Mosaicism

By Eduardo Pásaro Méndez and Rosa Ma Fernández García


Open access peer-reviewed

22. Microstomia: A Rare but Serious Oral Manifestation of Inherited Disorders

By Aydin Gulses


Edited Volume and chapters are indexed in

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

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