Gaucher Disease: 1st Edition (Hardback) book cover

Gaucher Disease

1st Edition

Edited by Anthony H. Futerman, Ari Zimran

CRC Press

552 pages | 16 Color Illus. | 94 B/W Illus.

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pub: 2006-07-07
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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.


"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

Table of Contents

Introduction: Overview and Historical Perspective, R.O. Brady

Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations, K. S. Hruska, M. E. LaMarca, and E. Sidransky

Cell Biology and Biochemistry of Acid b-Glucosidase:

The Gaucher Disease Enzyme, G. A. Grabowski, A. Kazimierczuk, and B. Liou

Saposin C and Other Sphingolipid Activator Proteins, S. Locatelli Hoops, T. Kolter, and K. Sandhoff

The X-Ray Structure of Human Acid-b-Glucosidase:

Implications for Second-Generation Enzyme replacement therapy, L. Premkumar, I. Silman,

J. L. Sussman, and A. H. Futerman

Cellular Pathology in Gaucher Disease, A. H. Futerman

The Biochemistry and Cellular Biology of Sphingolipids and

Glucosylceramide, J. A. Shayman

The Development of Enzyme replacement therapy for Lysosomal Diseases: Gaucher Disease and Beyond, E. H. Schuchman, and S. Muro

Gaucher Disease Animal Models, Ying Sun, You-Hai Xu, and G. A. Grabowski

Type 1 Gaucher Disease - Clinical Features, P Mistry, and Ari Zimran

Neuronopathic Gaucher Disease, R. Schiffmann, and A. Vellodi,

Pathologic Anatomy of Gaucher Disease, R. E. Lee

Neuropathological Aspects of Gaucher Disease , K. Wong

Diagnosis and Laboratory Features, C.E.M. Hollak and J.M.F.G. Aerts

Imaging in Gaucher Disease, Focused on Bone Pathology, M. Maas and E.M. Akkerman

Radionuclide Evaluation of Gaucher Disease, G. Mariani and P. A. Erba

Epidemiology and Screening Policy, P.J. Meikle, M. Fuller, and J.J. Hopwood

Enzyme replacement therapy for Type I Gaucher Disease, Ari Zimran, B. Bembi, and G. Pastores

Substrate Reduction Therapy, F. M. Platt and T. M. Cox

Pharmacologic Chaperone Therapy for Lysosomal Diseases, R. J. Desnick and Jian-Qiang Fan

The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases, D. J. Begley

Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy, C. Peters and W. Krivit

Ethical Concerns in Treating Rare Diseases with Expensive Therapy, D. Elstein and A. Steinberg

Societal Aspects in Treating Rare Diseases with Expensive Therapy, D. Elstein, and Avi Yisraeli

Gaucher Disease as a Model for an Orphan Disease: Medical Aspects, J. Waalen, and E. Beutler

Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases, D. Meeker, and H. A. Termeer, Genzyme Corporation

Patients' Perspective, S. Lewis, T. Collin-Histed, J. Manuel, and G. Macres

Societal Perspective: Comment, A. Alpert, A. M. Garber, and D. P. Goldman

Gaucher Associations Around the World


Subject Categories

BISAC Subject Codes/Headings:
MEDICAL / Endocrinology & Metabolism
MEDICAL / Hematology
SCIENCE / Life Sciences / Genetics & Genomics