Lysosomal Storage Disorders: A Practical Guide

Atul B. Mehta · Bryan Winchester

Sep 2012 · Sold by John Wiley & Sons

About this ebook

The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in
this accessible volume, which gives an up-to-date overview of the subject.

There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications.

The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions.

Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations.

Titles of related interest
Haematology at a Glance • Mehta • ISBN 9781405179706

Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273

About the author

Edited by
Atul Mehta, Professor of Haematology, University College London,
Royal Free Hospital, London, UK

Bryan Winchester, Emeritus Professor of Biochemistry, UCL Institute of Child Health
at Great Ormond Street Hospital, University College London, London, UK