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. In this blog post, you will be able to download free PDF e-book copy of Gaucher Disease PDF.
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.
Table of Contents
Below is the complete table of contents presented in Gaucher Disease PDF:
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
Chapter 4 Saposin C and Other Sphingolipid Activator Proteins
Chapter 5 The X-Ray Structure of Human Acid-
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
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
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
Chapter 27 Patients’ Perspective
Chapter 28 Societal Perspective: Comment
Chapter 29 Gaucher Associations Around the World
Below are the technical specifications of Gaucher Disease PDF.
- Book Name : Gaucher Disease
- Edition : 1st Edition | | ISBN : 0849338166
- Author Name : Anthony H Futerman; Ari Zimran;
- Category : Medical
- Format / Pages : PDF – 544 Pages
Gaucher Disease PDF Free Download
Here you will be able to download Gaucher Disease PDF by using our direct download links that have been mentioned at the end of this article. This is a genuine PDF e-book file. We hope that you find this book useful in your studies. 🙂
Below is a screenshot of the cover image of this book:
FILE SIZE: 13.4 MB
Please use the link below to download Gaucher Disease PDF for free:
Have fun! 🙂
DMCA Disclaimer: This website strictly complies with DMCA Digital Copyright Laws. Please keep in mind that we do not own copyrights to these e-books. We are sharing this material ONLY for educational purpose. We highly encourage our readers to purchase this content from the respected publishers. If someone with copyrights wants us to remove this content, please contact us immediately.
All books/videos at Pick A PDF are free and NOT HOSTED ON OUR WEBSITE. If you feel that your copyrights have been violated, then please contact us immediately.
You may send an email to pickapdf [at] gmail.com for all DMCA / Removal Requests.
** LIKE US ON FACEBOOK FOR LATEST e-BOOK DOWNLOADS **