In recent years there has been enormous scientific interest in the area of lysosomal storage
disorders especially the mucopolysaccharidoses. Advanced diagnostics particularly in the
field of molecular genetics have become more widely available and at the same time numerous
new therapies have been developed for these so-called 'orphan diseases'. The current 4th
edition of this book no longer only focuses on mucopolysaccharidoses but also a number of
similar diseases. Therefore the new revised guide is intended to provide essential information
not only for health professionals but also the affected individuals themselves and their
families. This book introduces the pathophysiology of these rare metabolic diseases and
provides an overview of current treatment and management options such as bone marrow (stem
cell) transplantation and enzyme replacement therapy. It will be a helpful companion for
patients and their carers and will also serve doctors and allied healthcare practitioners as a
comprehensive reference work for the diagnosis and therapy of lysosomal storage diseases.
