Gaucher Disease
eBook - PDF

Gaucher Disease

  1. 544 pages
  2. English
  3. PDF
  4. Available on iOS & Android
eBook - PDF

Gaucher Disease

About this book

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 proto

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Yes, you can access Gaucher Disease by Anthony H. Futerman,Ari Zimran in PDF and/or ePUB format, as well as other popular books in Medicine & Endocrinology & Metabolism. We have over one million books available in our catalogue for you to explore.

Information

Publisher
CRC Press
Year
2006
eBook ISBN
9781420005509
Edition
1
Topic
Medicine
Subtopic
Endocrinology & Metabolism
1
CHAPTER
1
Introduction: 
Overview 
and
Historical 
Perspective
Roscoe 
O. 
Brady 
CONTENTS
Original 
Descriptions 
of 
Patients 
with 
Gaucher 
Disease
.........................................
1
Accumulating 
Materials
............................................................................................
3
Glucocerebroside
..............................................................................................
3
Glucopsychosine 
(glucosylsphingosine)
..........................................................
4
Elucidation 
of 
the 
Enzymatic 
Defect 
in 
Gaucher 
Disease
.......................................
5
Diagnostic 
Tests 
and 
Genetic 
Counseling
.................................................................
6
Therapy
......................................................................................................................
6
Enzyme 
Replacement
.......................................................................................
6
Gene 
Therapy
...................................................................................................
7
The 
Future
..................................................................................................................
8
Envoi
..........................................................................................................................
8
References
..................................................................................................................
8
ORIGINAL 
DESCRIPTIONS 
OF 
PATIENTS 
WITH 
GAUCHER 
DISEASE
Gaucher 
disease 
is 
named 
for 
the 
French 
dermatologist 
Philippe 
C.E. 
Gaucher
who 
described 
a 
23-year-old 
female 
patient 
in 
1882 
who 
had 
an 
enlarged 
spleen
that 
he 
believed 
was 
due 
to 
an 
epithelioma.
1
He 
noted 
the 
presence 
of 
large, 
unusual
cells 
in 
the 
patient’s 
spleen. 
Reports 
of 
additional 
patients 
with 
similar 
presentations
appeared 
shortly 
thereafter,
2-4
and 
the 
eponym 
“Gaucher’s 
disease” 
was 
applied. 
In
addition, 
the 
term 
“Gaucher 
cell” 
also 
became 
commonly 
used 
to 
specify 
the 
char-
acteristic 
engorged 
cells 
in 
the 
organs 
of 
such 
patients. 
Brill 
suggested 
in 
1901 
that
Gaucher 
disease 
was 
a 
familial 
disorder.
5
Involvement 
of 
the 
lymph 
nodes, 
the 
liver,

Table of contents

  1. Front Cover
  2. Preface
  3. The Editors
  4. Contributors
  5. Contents
  6. Chapter 1. Introduction: Overview and Historical Perspective
  7. Chapter 2. Gaucher Disease: Molecular Biology and Genotype-Phenotype Correlations
  8. Chapter 3. Cell Biology and Biochemistry of Acid β-Glucosidase: The Gaucher Disease Enzyme
  9. Chapter 4. Saposin C and Other Sphingolipid Activator Proteins
  10. Chapter 5. The X-Ray Structure of Human Acid-β-Glucosidase: Implications for Second-Generation Enzyme Replacement Therapy
  11. Chapter 6. Cellular Pathology in Gaucher Disease
  12. Chapter 7. The Biochemistry and Cellular Biology of Sphingolipids and Glucosylceramide
  13. Chapter 8. The Development of Enzyme Replacement Therapy for Lysosomal Diseases: Gaucher Disease and Beyond
  14. Chapter 9. Gaucher Disease Animal Models
  15. Chapter 10. Type 1 Gaucher Disease — Clinical Features
  16. Chapter 11. Neuronopathic Gaucher Disease
  17. Chapter 12. Pathologic Anatomy of Gaucher Disease: A Pictorial Essay
  18. Chapter 13. Neuropathological Aspects of Gaucher Disease
  19. Chapter 14. Diagnosis and Laboratory Features
  20. Chapter 15. Imaging in Gaucher Disease, Focusing on Bone Pathology
  21. Chapter 16. Radionuclide Evaluation of Gaucher Disease
  22. Chapter 17. Epidemiology and Screening Policy
  23. Chapter 18. Enzyme Replacement Therapy for Type I Gaucher Disease
  24. Chapter 19. Substrate Reduction Therapy
  25. Chapter 20. Pharmacologic Chaperone Therapy for Lysosomal Diseases
  26. Chapter 21. The Significance of the Blood-Brain Barrier for Gaucher Disease and Other Lysosomal Storage Diseases
  27. Chapter 22. Hematopoietic Stem Cell Transplantation, Stem Cells, and Gene Therapy
  28. Chapter 23. Ethical Concerns in Treating Rare Diseases with Expensive Therapy
  29. Chapter 24. Societal Aspects in Treating Rare Diseases with Expensive Therapy
  30. Chapter 25. Gaucher Disease as a Model for an Orphan Disease: Medical Aspects
  31. Chapter 26. Meeting the Needs of Patients with Gaucher Disease: Pioneering a Sustainable Model for Ultra-Orphan Diseases
  32. Chapter 27. Patients’ Perspective
  33. Chapter 28. Societal Perspective: Comment
  34. Chapter 29. Gaucher Associations Around the World
  35. Index