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Gaucher disease

Author: Anthony H Futerman; Ari Zimran
Publisher: Boca Raton : CRC/Taylor & Francis, ©2007.
Edition/Format:   Print book : EnglishView all editions and formats
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Offering information for academic and industry scientists, and clinicians, this book outlinines the research on the biochemistry and pathology of lysosomal storage disorders. It covers diverse topics  Read more...

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Document Type: Book
All Authors / Contributors: Anthony H Futerman; Ari Zimran
ISBN: 0849338166 9780849338168
OCLC Number: 65195285
Description: 528 pages, [8] pages of plates : illustrations (some color) ; 25 cm
Contents: Ch. 1. Introduction : overview and historical perspective / Roscoe O. Brady --
Ch. 2. Gaucher disease : molecular biology and genotype-phenotype correlations / Kathleen S. Hruska, Mary E. LaMarca and Ellen Sidransky --
Ch. 3. Cell biology and biochemistry of acid [beta]-glucosidase : the Gaucher disease enzyme / Gregory A. Grabowski, Andrzej Kazimierczuk and Benjamin Liou --
Ch. 4. Saposin C and other sphingolipid activator proteins / Silvia Locatelli Hoops, Thomas Kolter and Konrad Sandhoff --
Ch. 5. The X-ray structure of human acid-[beta]-glucosidase : implications for second-generation enzyme replacement therapy / Lakshmanane Premkumar, Israel Silman, Joel L. Sussman and Anthony H. Futerman --
Ch. 6. Cellular pathology in Gaucher disease / Anthony H. Futerman --
Ch. 7. The biochemistry and cellular biology of sphingolipids and glucosylceramide / James A. Shayman --
Ch. 8. The development of enzyme replacement therapy for lysosomal diseases : Gaucher disease and beyond / Edward H. Schuchman and Silvia Muro --
Ch. 9. Gaucher disease animal models / Ying Sun, You-Hai Xu and Gregory A. Grabowski --
Ch. 10. Type 1 Gaucher disease --
clinical features / Pramod K. Mistry and Ari Zimran --
Ch. 11. Neuronopathic Gaucher disease / Raphael Schiffmann and Ashok Vellodi --
Ch. 12. Pathologic anatomy of Gaucher disease : a pictorial essay / Robert E. Lee --
Ch. 13. Neuropathological aspects of Gaucher disease / Kondi Wong --
Ch. 14. Diagnosis and laboratory features / Carla E.M. Hollak and Johannes M.F.G. Aerts --
Ch. 15. Imaging in Gaucher disease, focusing on bone pathology / Mario Maas and Erik M. Akkerman --
Ch. 16. Radionuclide evaluation of Gaucher disease / Giuliano Mariani and Paola A. Erba --
Ch. 17. Epidemiology and screening policy / Peter J. Meikle, Maria Fuller and John J. Hopwood --
Ch. 18. Enzyme replacement therapy for type I Gaucher disease / Ari Zimran, Bruno Bembi and Gregory M. Pastores --
Ch. 19. Substrate reduction therapy / Frances M. Platt and Timothy M. Cox --
Ch. 20. Pharmacologic chaperone therapy for lysosomal diseases / Robert J. Desnick and Jian-Qiang Fan --
Ch. 21. The significance of the blood-brain barrier for Gaucher disease and other lysosomal storage diseases / David J. Begley --
Ch. 22. Hematopoietic stem cell transplantation, stem cells, and gene therapy / Charles Peters and William Krivit --
Ch. 23. Ethical concerns in treating rare diseases with expensive therapy / Deborah Elstein and Avraham Steinberg --
Ch. 24. Societal aspects in treating rare diseases with expensive therapy / Deborah Elstein and Avi Israeli --
Ch. 25. Gaucher disease as a model for an orphan disease : medical aspects / Jill Waalen and Ernest Beutler --
Ch. 26. Meeting the needs of patients with Gaucher disease : pioneering a sustainable model for ultra-orphan diseases / David P. Meeker and Henri A. Termeer --
Ch. 27. Patients' perspective / Susan Lewis, Tanya Collin-Histed, Jeremy Manuel and Greg Macres --
Ch. 28. Societal perspective : comment / Abby Alpert, Alan M. Garber and Dana P. Goldman --
Ch. 29. Gaucher associations around the world.
Responsibility: edited by Anthony H. Futerman, Ari Zimran.
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"The book is a very valuable source for specialists interested in various aspects of Gaucher disease... There is no doubt that this book will be very useful for medical schools and university Read more...

 
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