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OverviewIn September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of others. Like many rare conditions, Gaucher disease has benefited from the explosion of medical research in the last decade, the amount of new information on this disease is staggering and the rate of new discoveries has left previous books on the subject unable to provide useful, up-to-date information. The most current, fully comprehensive reference to date, Gaucher Disease provides valuable information for academic and industry scientists, and clinicians. Outlining the latest research on the biochemical mechanisms and pathology of lysosomal storage disorders, this book covers diverse topics including animal models, crystallography, imaging and radionuclide evaluation. It not only addresses the developmental basis for current treatments like the now widely available enzyme replacement therapy, but also includes chapters introducing new therapies on the horizon. With contributions from world-renowned experts in substrate reduction therapy, pharmaceutical chaperone therapy, hematopoietic stem cell transplantation and gene therapy, as well as chapters on a second generation of enzyme replacement therapy, this book explores the full spectrum of possibilities offered by the most recent advances in medicine. Some of the most interesting aspects of the book include the discussions on patient management, those touching on the ethics of research, and the societal aspects of treating rare diseases with expensive therapy. Full Product DetailsAuthor: Anthony H. Futerman , Ari ZimranPublisher: Taylor & Francis Inc Imprint: CRC Press Inc Dimensions: Width: 15.60cm , Height: 3.40cm , Length: 23.40cm Weight: 1.180kg ISBN: 9780849338168ISBN 10: 0849338166 Pages: 552 Publication Date: 07 July 2006 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: In Print  This item will be ordered in for you from one of our suppliers. Upon receipt, we will promptly dispatch it out to you. For in store availability, please contact us. Table of ContentsPreface. Introduction. Molecular Biology. Enzymology. Prosaposin and Saposin. Enzyme 3D Structure. Cellular Pathogenesis of Gaucher Disease. Biochemistry of Glycolipids and Glucosylceramide. Understanding Gaucher Disease in the Context of other LSDs. Animal Models of GD. Clinical Features of Type 1. Clinical Features of Neurological Forms. Disease Pathology. Diagnosis and Laboratory Features. Diagnostic Imaging. Epidemiology and Screening Policy. ERT. SRT. Chaperone Therapy. New Expression Systems for 2nd Generation ERT. Blood Brain Barrier and Neuronopathic GD. BMT, Step Cell and Gene Therapy. Ethical Aspects. Societal Aspects. Medical Aspects. Pharma Aspects. Patient Perspective. Commentary and Summary.ReviewsThe 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 students and their teachers involved in study of rare human diseases. --in Biokhimiya, 2008 Author InformationAnthony H. Futerman, Ari Zimran Tab Content 6Author Website:Countries AvailableAll regions |
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