Lysosomal Storage Disorders

  • John A. Barranger
  • Mario A. Cabrera-Salazar

Table of contents

  1. Front Matter
    Pages i-xix
  2. Doug Brooks, Emma Parkinson-Lawrence
    Pages 7-36
  3. Roscoe O. Brady, Roscoe O. Brady Jr.
    Pages 45-52
  4. Seon-Hee Kim, Paul D. Robbins
    Pages 53-67
  5. Angela Montecalvo, Andrea Gambotto, Leonardo D’Aiuto
    Pages 69-80
  6. Dolan Sondhi, Neil R. Hackett, Stephen M. Kaminksy, Ronald G. Crystal
    Pages 81-95
  7. Mario A. Cabrera-Salazar, Seng H. Cheng
    Pages 97-109
  8. Edward A. Burton, Joseph C. Glorioso
    Pages 111-131
  9. Alessandra Biffi, Luigi Naldini
    Pages 133-151
  10. Frances M. Platt, Terry D. Butters
    Pages 153-168
  11. C. Ronald Scott, Frantisek Turecek, Michael H. Gelb
    Pages 169-178
  12. Erin O'Rourke, Dawn Laney, Cindy Morgan, Kim Mooney, Jennifer Sullivan
    Pages 179-195
  13. Jean-Pyo Lee, Dan Clark, Mylvaganam Jeyakumar, Rodolfo Gonzalez, Scott Mckercher, Franz-Josef Muller et al.
    Pages 197-216
  14. Gustavo Charria-Ortiz
    Pages 217-228
  15. Gustavo A. Charria-Ortiz
    Pages 229-256
  16. Edward H. Schuchmann, Margaret McGovern, Calogera M. Simonaro, Melissa P. Wasserstein, Robert J. Desnick
    Pages 257-268
  17. Junko Matsuda, Kunihiko Suzuki
    Pages 269-283
  18. Volkmar Gieselmann
    Pages 285-306
  19. Roscoe O. Brady
    Pages 307-318
  20. Mario A. Cabrera-Salazar, John A. Barranger
    Pages 319-343
  21. Beverly L. Davidson, Mario A. Cabrera-Salazar, David A. Pearce
    Pages 371-388
  22. Lorne A. Clarke
    Pages 389-405
  23. Lorne A. Clarke
    Pages 407-414
  24. Shunji Tomatsu, Adriana M. Montaño, Tatsuo Nishioka, Tadao Orii
    Pages 433-445
  25. Arnold Reuser, Marian Kroos
    Pages 473-498
  26. Amanda Helip-Wooley, Robert Kleta, William A. Gahl
    Pages 499-511
  27. Amanda Helip-Wooley, Robert Kleta, William A. Gahl
    Pages 513-527
  28. Doug Brooks, Chris Turner, Viv Muller, John J. Hopwood, Peter Meikle
    Pages 529-537
  29. Back Matter
    Pages 539-562

About this book


Lysosomal Biology and Storage Disorders

John A. Barranger and Mario A. Cabrera-Salazar

The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities.

Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area.

Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease.

This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book.


About the Editors:

John A. Barranger, M.D., Ph.D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine.

He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution

Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.


Glycogen Lipid Polysaccharid enzymes gene therapy gene transfer genes genetics

Authors and affiliations

  • John A. Barranger
    • 1
  • Mario A. Cabrera-Salazar
    • 2
  1. 1.Department of Human GeneticsUniversity of PittsburghPittsburghUSA
  2. 2.Genzyme Corporation01701–9322FraminghamUSA

Bibliographic information

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