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Lysosomal Storage Disorders: A Practical Guide

Atul Mehta (Editor), Bryan Winchester (Editor)
ISBN: 978-0-470-67087-3
208 pages
January 2013, Wiley-Blackwell
Lysosomal Storage Disorders: A Practical Guide (0470670878) cover image

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.

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List of Contributors, v

Preface, viii

Foreword, x

Part 1 General Aspects of Lysosomal Storage Diseases, 1

1 The Lysosomal System: Physiology and Pathology, 3
Matthew C. Micsenyi and Steven U. Walkley

2 Clinical Aspects and Clinical Diagnosis, 13
J. Edmond Wraith and Michael Beck

3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20
Bryan Winchester

4 Genetics of Lysosomal Storage Disorders and Counselling, 29
John J. Hopwood

5 Classification of Lysosomal Storage Diseases, 37
Bryan Winchester

Part 2 The Individual Diseases, 47

6 Gaucher Disease, 49
Deborah Elstein and Ari Zimran

7 Fabry Disease, 58
Atul Mehta and Uma Ramaswami

8 The Gangliosidoses, 63
Joe T.R. Clarke

9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 70
Volkmar Gieselmann, David A. Wenger and Ingeborg Krägeloh-Mann

10 Types A and B Niemann–Pick Disease, 80
Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman

11 Niemann–Pick Disease Type C, 87
Marie T. Vanier and Marc C. Patterson

12 The Mucopolysaccharidoses, 94
Roberto Giugliani

13 Pompe Disease, 101
Arnold J.J. Reuser and Ans T. van der Ploeg

14 Glycoproteinoses, 107
Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen

15 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 115
Alessandra d’Azzo and Erik J. Bonten

16 Multiple Enzyme Deficiencies, 121

16.1 Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 121
Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke

16.2 Multiple Sulfatase Deficiency, 127
Graciana Diez-Roux and Andrea Ballabio

17 Lysosomal Membrane Defects, 131
Michael Schwake and Paul Saftig

18 Neuronal Ceroid Lipofuscinoses, 137
Jonathan D. Cooper and Ruth E. Williams

19 Other Lysosomal Disorders, 142
Bryan Winchester and Timothy M. Cox

Part 3 Therapy and Patient Issues, 151

20 Current Treatments, 153
Timothy M. Cox

21 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier, 166
David J. Begley and Maurizio Scarpa

22 Emerging Treatments and Future Outcomes, 174
T. Andrew Burrow and Gregory A. Grabowski

23 Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders, 181
Gabor E. Linthorst and Carla E.M. Hollak

24 The Patient Perspective on Rare Diseases, 186
Alastair Kent, Christine Lavery, and Jeremy Manuel

Index, 193

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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
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