Lysosomal Storage Disorders: A Practical Guide, 2nd Edition 2022 Original PDF

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