Lysosomal Storage Disorders: A Practical Guide [9781119697282]

Overview

Lysosomal Storage Disorders

Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders

In the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include:

• The general aspects of LSDs, with special attention paid to physiology and pathology
• Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs
• Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses
• Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism
• The existing and emerging treatments for LSDs
• Key patient issues such as availability and disease awareness, including in the Third World.

For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.