Elstein, Deborah

Fabry Disease

Elstein, Deborah - Fabry Disease, ebook


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ISBN: 9789048190331
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Table of contents

1. Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation
Andreas Gal

2. The Structure of Human α-Galactosidase A and Implications for Fabry Disease
Abigail I. Guce, Scott C. Garman

3. Subcellular, Cellular and Organ Pathology of Fabry Disease
Milan Elleder

4. Biochemistry of Fabry Disease
Martin Hřebíček, Jana Ledvinová

5. Clinically Relevant Examples of Genotype–Phenotype Correlation
Gheona Altarescu

6. Laboratory Diagnosis of Fabry Disease
Bryan Winchester, Elisabeth Young

7. Biomarkers for Fabry Disease
Johannes M.F.G. Aerts

8. Fabry Disease Case Finding Studies in High-Risk Populations
Gere Sunder-Plassmann, Manuela Födinger

9. Small Molecule Drug Discovery for Fabry Disease
Omid Motabar, Ehud Goldin, Wei Zheng, Ellen Sidransky

10. Clinical Manifestations of Fabry Disease: An Overview
Atul Mehta

11. The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy
Christoph Kampmann, Aleš Linhart

12. Renal Manifestations of Fabry Disease
David G. Warnock, Carmen Valbuena, Michael West, João Paulo Oliveira

13. Neurological Manifestations in Fabry Disease
Arndt Rolfs, Ales Dudesek, Jan Lukas, Tobias Böttcher

14. Dermatological Manifestations of Fabry Disease
Catherine H. Orteu

15. Histopathology of Skin in Fabry Disease
Carmen Navarro, Susana Teijeira, Saida Ortolano, Jose M. Fernandez, Beatriz San Millan, Carmen Fachal, Francisco Allegue, Soraya Barrera

16. Bone and Muscle Involvement in Fabry Disease
Dominique P. Germain

17. The Eye in Fabry Disease
Andrea Sodi

18. Pulmonary, Ear and Less Commonly Appreciated Manifestations
Julian A.J. Raiman, Joe T.R. Clarke

19. Neuropsychiatric Manifestations of AFD
Perri Segal, Annick Raas-Rothschild

20. Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease
Robin L. Bennett

21. Fabry Disease in Females
D.A. Hughes

22. Fabry Disease in Pediatric Patients
Maryam Banikazemi

23. Experimental Studies in Mice on the Vasculopathy of Fabry Disease
James A. Shayman

24. Overview
Michael Beck

25. Agalsidase Alfa in the Treatment of Anderson-Fabry Disease
Gregory M. Pastores

26. Agalsidase Beta Clinical Trials and Long Term Experience
Carlos E. Prada, Robert J. Hopkin

27. Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease
T. Andrew Burrow, Gregory A. Grabowski

28. Enzyme Replacement Therapy in Children with Fabry Disease
Uma Ramaswami

29. Pharmacological Chaperone Therapy for Fabry Disease
Jian-Qiang Fan, Satoshi Ishii

30. Potential Factors Influencing Treatment Outcomes
G.E. Linthorst, C.E.M. Hollak

31. Symptomatic and Ancillary Therapy
Catharina Whybra-Trümpler

32. The Price of Care Versus the Cost of Caring
Joe T.R. Clarke

Keywords: Medicine & Public Health, Metabolic Diseases, Human Genetics

Publication year
Page amount
37 pages
Medicine, Health Care, Mode

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