Title:
Gaucher disease
Author:
Futerman, Anthony H., editor.
ISBN:
9780429114557
Edition:
First edition.
Physical Description:
1 online resource (544 pages) : 201 illustrations
Contents:
chapter 1 Introduction: Overview and Historical Perspective -- chapter 2 Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations -- chapter 3 Cell Biology and Biochemistry of Acid β-Glucosidase: The Gaucher Disease Enzyme -- chapter 4 Saposin C and Other Sphingolipid Activator Proteins -- chapter 5 The X-Ray Structure of Human Acid-β-Glucosidase: Implications for Second-Generation Enzyme Replacement Therapy -- chapter 6 Cellular Pathology in Gaucher Disease -- chapter 7 The Biochemistry and Cellular Biology of Sphingolipids and Glucosylceramide -- chapter 8 The Development of Enzyme Replacement Therapy for Lysosomal Diseases: Gaucher Disease and Beyond -- chapter 9 Gaucher Disease Animal Models -- chapter 10 Type 1 Gaucher Disease — Clinical Features -- chapter 11 Neuronopathic Gaucher Disease -- chapter 12 Pathologic Anatomy of Gaucher Disease: A Pictorial Essay -- chapter 13 Neuropathological Aspects of Gaucher Disease -- chapter 14 Diagnosis and Laboratory Features -- chapter 15 Imaging in Gaucher Disease, Focusing on Bone Pathology -- chapter 16 Radionuclide Evaluation of Gaucher Disease -- chapter 17 Epidemiology and Screening Policy -- chapter 18 Enzyme Replacement Therapy for Type I Gaucher Disease -- chapter 19 Substrate Reduction Therapy -- chapter 20 Pharmacologic Chaperone Therapy for Lysosomal Diseases -- chapter 21 The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases -- chapter 22 Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy -- chapter 23 Ethical Concerns in Treating Rare Diseases with Expensive Therapy -- chapter 24 Societal Aspects in Treating Rare Diseases with Expensive Therapy -- chapter 25 Gaucher Disease as a Model for an Orphan Disease: Medical Aspects -- chapter 26 Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases -- chapter 27 Patients’ Perspective -- chapter 28 Societal Perspective: Comment -- chapter 29 Gaucher Associations Around the World.
Abstract:
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.
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Library | Material Type | Item Barcode | Shelf Number | Status | Item Holds |
|---|---|---|---|---|---|
Searching... | E-Book | 541817-1001 | RC632 .G36 | Searching... | Searching... |