Overview

In 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 Details

Author:   Anthony H. Futerman ,  Ari Zimran
Publisher:   Taylor & Francis Inc
Imprint:   CRC Press Inc
Dimensions:   Width: 15.60cm , Height: 3.40cm , Length: 23.40cm
Weight:   1.180kg
ISBN:  

9780849338168

ISBN 10:   0849338166
Pages:   552
Publication Date:   07 July 2006
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   In Print  
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Table of Contents

Preface. 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.

Reviews

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 students and their teachers involved in study of rare human diseases. --in Biokhimiya, 2008

Author Information

Anthony H. Futerman, Ari Zimran

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