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

Copyright year: 2011

Books open for chapter submissions

84696 Total Chapter Downloads

6 Crossref Citations

17 Web of Science Citations

34 Dimensions Citations

chaptersDownloads

Open access peer-reviewed

1. Origin of the Genetic Code and Genetic Disorder

By Kenji Ikehara

2801

Open access peer-reviewed

2. Inbreeding and Genetic Disorder

By Gonzalo Alvarez, Celsa Quinteiro and Francisco C. Ceballos

10932

Open access peer-reviewed

3. Cytogenetic Techniques in Diagnosing Genetic Disorders

By Kannan Thirumulu Ponnuraj

11783

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

1763

Open access peer-reviewed

5. Targeted Metabolomics for Clinical Biomarker Discovery in Multifactorial Diseases

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

2108

Open access peer-reviewed

6. Thalassemia Syndrome

By Tangvarasittichai Surapon

9120

Open access peer-reviewed

7. Genomic Study in β-Thalassemia

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

3386

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

2430

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

2414

Open access peer-reviewed

10. Alström Syndrome

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

1762

Open access peer-reviewed

11. Alpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder

By Michael Sjoding and D. Kyle Hogarth

3094

Open access peer-reviewed

12. Tangier Disease

By Yoshinari Uehara, Bo Zhang and Keijiro Saku

1733

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

3037

Open access peer-reviewed

14. Fabry Cardiomyopathy: A Global View

By Rocio Toro Cebada, Alipio Magnas and Jose Luis Zamorano

1992

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

2659

Open access peer-reviewed

16. Peroxisomal Biogenesis: Genetic Disorders Reveal the Mechanisms

By Manuel J. Santos and Alfonso González

1705

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

1717

Open access peer-reviewed

18. Genetic Basis of Inherited Bone Marrow Failure Syndromes

By Yigal Dror

2736

Open access peer-reviewed

19. Bernard Soulier Syndrome: A Genetic Bleeding Disorder

By Basma Hadjkacem, Jalel Gargouri and Ali Gargouri

3396

Open access peer-reviewed

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

By Maria Puiu and Natalia Cucu

2058

Open access peer-reviewed

21. Turner Syndrome and Sex Chromosomal Mosaicism

By Eduardo Pásaro Méndez and Rosa Ma Fernández García

5076

Open access peer-reviewed

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

By Aydin Gulses

6994

Edited Volume and chapters are indexed in

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  • CNKI

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