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

Authored by Arnold J.J. Reuser and Benedikt Schoser, this book provides an in-depth exploration of Pompe disease, a rare lysosomal storage disorder that has seen significant advances in understanding and treatment in recent years.

With growing awareness of Pompe disease, previously unknown clinical features have emerged, and the number of diagnosed patients has increased worldwide. Ongoing research has led to a better understanding of the pathophysiology of the disease, paving the way for novel therapeutic approaches.

Understanding Disease Mechanisms and Phenotypic Spectrum

This third edition of “Pompe Disease” highlights the substantial progress made in understanding disease mechanisms, describing the phenotypic spectrum of Pompe disease, developing diagnostic algorithms, and improving patient care.

We have summarized the current techniques contributing to disease diagnosis, predictive genetic testing, and therapy development, providing a valuable resource for healthcare professionals and interested individuals alike.

Clinical Spectrum, Diagnostic Procedures, and Therapeutic Options

This updated edition focuses on the clinical spectrum of Pompe disease, diagnostic procedures, the efficacy of enzyme replacement therapy, and future gene therapy. It offers comprehensive information on all aspects of Pompe disease, making it an essential guide for both healthcare professionals and laypeople.

Publication details:

Publication date: February 17, 2022
Language: English
Publisher: UNI-MED Verlag AG; 3rd edition