Pompe disease is a rare lysosomal storage disorder with growing therapeutic options. Because of
rising awareness of Pompe disease over the past decades less well-known clinical features have
emerged and the number of diagnosed patients has increased around the world. Furthermore
embedded research is turning into an increased understanding of the pathophysiology and has
opened the way for novel therapeutic approaches. This edition highlights the significant
advances in the understanding of disease mechanisms in describing the phenotypic spectrum of
Pompe disease in developing diagnostic algorithms and in improving patient care. We summarized
the current techniques contributing to disease diagnosis predictive genetic testing and
therapy development. This third edition of 'Pompe Disease' was updated particularly with
regards to the clinical spectrum the diagnostic procedures the efficacy of enzyme replacement
therapy and future gene therapy. It provides helpful information to healthcare professionals
as well as to interested lay people on all aspects of Pompe disease.
