Open access peer-reviewed Edited Volume

Advances in the Study of Genetic Disorders

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Academic Editor

Kenji Ikehara
Kenji Ikehara

Nara Women's University,
Japan

Published21 November 2011

Doi10.5772/745

ISBN978-953-307-305-7

eBook (PDF) ISBN978-953-51-6575-0

Copyright year2011

Number of pages486

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Table of Contents

Open access  chapters

2. Inbreeding and Genetic Disorder

By Gonzalo Alvarez, Celsa Quinteiro and Francisco C. Ceballos

12,370
3
5. Targeted Metabolomics for Clinical Biomarker Discovery in Multifactorial Diseases

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

2,916
1
6. Thalassemia Syndrome

By Tangvarasittichai Surapon

10,392
1
7. Genomic Study in β-Thalassemia

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

4,254
1
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

3,388
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

3,269
1
10. Alström Syndrome

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

2,553
4,126
12. Tangier Disease

By Yoshinari Uehara, Bo Zhang and Keijiro Saku

2,561
1
13. Fabry Disease: A Metabolic Proteinuric Nephropathy

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

3,813
14. Fabry Cardiomyopathy: A Global View

By Rocio Toro Cebada, Alipio Magnas and Jose Luis Zamorano

2,897
15. The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum

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

3,589
3
2,553
19. Bernard Soulier Syndrome: A Genetic Bleeding Disorder

By Basma Hadjkacem, Jalel Gargouri and Ali Gargouri

4,919
1
21. Turner Syndrome and Sex Chromosomal Mosaicism

By Eduardo Pásaro Méndez and Rosa Ma Fernández García

6,191
1

IMPACT OF THIS BOOK AND ITS CHAPTERS

107,458 Total Chapter Downloads

4,382 Total Chapter Views

22 Crossref Citations

41 Web of Science Citations

60 Dimensions Citations

6 Altmetric Score

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