By Martina Baethmann, Volker Straub, Arnold J.J. Reuser
Pompe disease is a rare lysosomal storage disorder with limited therapeutic options. With rising awareness of Pompe disease over the past few years less well known clinical features have come to light and more patients have been diagnosed, and there is increasing knowledge about pathophysiology and therapeutic approach.This second edition considers the significant advances in the understanding of disease mechanisms, in delineating the phenotypic spectrum of Pompe disease, in developing diagnostic algorithms and in improving patient care. It also addresses new technologies concerning their supposed significant impact on disease diagnosis, predictive genetic testing and therapy development in the coming years.This book was updated especially regarding enzyme replacement therapy, diet, respiratory care and physiotherapy and provides helpful information to healthcare professionals as well as to interested lay people on all aspects of Pompe disease.

Introduction

Pompe disease is a rare genetic disorder that affects the metabolism of glycogen, leading to an accumulation of glycogen within the cells. This lysosomal storage disorder can have serious consequences for those affected, as it can impact various organs and systems within the body. In recent years, there has been a growing awareness of Pompe disease, resulting in more diagnoses and a better understanding of the condition.

The book “Pompe Disease: Diagnosis and Treatment” provides a comprehensive overview of the disease, including the latest advances in research and treatment options. Written by Martina Baethmann, Volker Straub, and Arnold J.J. Reuser, this second edition builds upon the knowledge and insights gained since the first edition was published.

Review

The book covers a wide range of topics related to Pompe disease, making it a valuable resource for healthcare professionals, researchers, and individuals who are affected by the condition. The authors provide a detailed exploration of the disease mechanisms, including the underlying genetic mutations and the resulting impact on the body.

One of the strengths of this book is its comprehensive approach to the clinical features of Pompe disease. The authors highlight less commonly known symptoms and manifestations of the disease, which can aid in earlier diagnosis and improved patient care. By presenting a more complete picture of the disease, healthcare professionals can better understand the complexities of Pompe disease and provide more targeted treatments.

In addition to discussing the clinical aspects of Pompe disease, the book also delves into the diagnostic algorithms and testing methods used to identify the condition. With the rapid advancements in technology, the authors explore the potential of new diagnostic tools and genetic testing for predicting disease onset or progression. This information is invaluable for both healthcare professionals and individuals who may be at risk of Pompe disease.

Furthermore, the book addresses the current therapeutic options available for treating Pompe disease. With the development of enzyme replacement therapy, there has been a significant improvement in patient outcomes and quality of life. The authors provide updates on the latest advancements in this field, including the role of diet, respiratory care, and physiotherapy in managing the disease. By incorporating these treatment modalities, healthcare professionals can provide a comprehensive approach to the care of individuals with Pompe disease.

Promotion

For healthcare professionals and individuals interested in learning more about Pompe disease, “Pompe Disease: Diagnosis and Treatment” is an essential resource. The book consolidates the latest research and clinical insights into a comprehensive guide that covers all aspects of the disease.

By ordering this book, readers will gain access to a wealth of information that can improve their understanding of Pompe disease and enhance patient care. Whether you are a healthcare professional seeking to expand your knowledge or an individual affected by Pompe disease, this book will provide valuable insights and practical recommendations for managing the condition.

In conclusion, “Pompe Disease: Diagnosis and Treatment” is a must-read for anyone involved in the care and treatment of individuals with Pompe disease. The authors have compiled a wealth of information that encompasses the latest advancements in research, diagnosis, and therapy. By ordering this book, readers will gain a comprehensive understanding of Pompe disease and be better equipped to provide optimal care for those affected by this rare genetic disorder.

Product Details

• ASIN ‏ : ‎ B09HXVPNWP
• Publisher ‏ : ‎ UNI-MED Verlag AG; 1st edition (February 12, 2015)
• Publication date ‏ : ‎ February 12, 2015
• Language ‏ : ‎ Japanese