Pompe Disease: A Comprehensive Guide to Understanding and Managing the Rare Lysosomal Storage Disorder

Authored by renowned experts Martina Baethmann, Volker Straub, and Arnold J.J. Reuser, this second edition of the book on Pompe disease delves into the latest advances in understanding the disease mechanisms, phenotype spectrum, diagnostic algorithms, and patient care.

Pompe disease, a rare lysosomal storage disorder, has gained increasing attention in recent years, leading to a rise in diagnosed cases and a deeper understanding of its pathophysiology and therapeutic approaches. This book is a valuable resource for healthcare professionals and interested individuals alike, providing insightful information on all aspects of the disease.

Advances in Pompe Disease Research and Treatment

The updated edition of this book focuses on the significant progress made in enzyme replacement therapy, diet, respiratory care, and physiotherapy, offering practitioners and patients a comprehensive understanding of the disease and its management.

New technologies have also been explored in the book, highlighting their potential impact on disease diagnosis, predictive genetic testing, and therapy development in the coming years.

A Valuable Resource for Healthcare Professionals and Patients

This book serves as a trusted guide for healthcare professionals seeking to improve patient care and outcomes, as well as for individuals and families affected by Pompe disease who wish to gain a deeper understanding of the condition and its management.

Published by UNI-MED Verlag AG in 2015, this publication is a testament to the ongoing efforts to combat this rare lysosomal storage disorder and improve the lives of those affected by it.