Lysosomal Storage Disorders: A Comprehensive Guide

By Atul B. Mehta (Author), this book offers a holistic and specific knowledge on the topic of Lysosomal Storage Disorders (LSDs). Over the past few decades, LSDs have witnessed significant advancements in clinical care, diagnosis, and research, making this book a timely review of the rapidly evolving subject.

General Aspects of LSDs

The book covers the general aspects of LSDs, with special attention paid to physiology and pathology. It provides a comprehensive overview of the subject, including the clinical and laboratory diagnosis, and the genetics of LSDs.

Clinical and Laboratory Diagnosis

Contributions from leading scientists and clinicians in the field provide insights into newborn screening and the genetics of LSDs. This section is crucial for understanding the diagnostic approaches and genetic implications of LSDs.

Individual LSDs

The book delves into the specifics of various LSDs, including:

• The various sphingolipidoses
• Mucopolysaccharidoses
• Glycogen storage disease
• Glycoproteinoses
• Galactosialidosis
• Neuronal ceroid lipofuscinoses

Other Disorders of the Lysosome

This section covers other disorders involving defects in the lysosomal membrane and the emerging roles of the lysosome in cellular metabolism.

Treatments for LSDs

The book discusses existing and emerging treatments for LSDs, providing readers with an understanding of the therapeutic options available.

Key Patient Issues

It addresses key patient issues such as availability and disease awareness, including in the Third World, ensuring that the book is relevant and useful for a wide audience.

For researchers and industry professionals in the field of LSDs, this book serves as a 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.