Lysosomal Storage Disorders: A Practical Guide Book

Foreword

Preface

Part 1: General Aspects of Lysosomal Storage Diseases

1 The Lysosomal System: Physiology and Pathology

Matthew C. Micsenyi, Steven U. Walkley

2 Clinical Aspects and Clinical Diagnosis

Ed Wraith, Michael Beck

3 Laboratory Diagnosis of LSDs

Bryan Winchester

4 Genetics of Lysosomal Storage Disorders and Counseling

John J. Hopwood

5 Integrated Classification

Bryan Winchester

Part 2: The Individual Diseases

6 Gaucher Disease

Deborah Elstein, Ari Zimran

7 Fabry Disease

Atul Mehta, Uma Ramaswami

8 The Gangliosidoses

Joe T.R. Clarke

9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy

Volkmar Gieselmann, David A. Wenger, Ingeborg Krägeloh-Mann

10 Types A and B Niemann-Pick Disease

Melissa P. Wasserstein, Robert J. Desnick, Edward H. Schuchman

11 Niemann-Pick Disease Type C

Marie T. Vanier, Marc C. Patterson

12 The Mucopolysaccharidoses

Roberto Giugliani

13 Pompe Disease

Arnold J. J. Reuser, Ans T. van der Ploeg

14 Glycoproteinoses

Dag Malm, Hilde Monica F. Riise Stensland, Øivind Nilssen

15 Multiple Enzyme Deficiencies: Defect in Protective Protein/Cathepsin A: Galactosialidosis

Alessandra d’Azzo, Erik J. Bonten

16(i) Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma

Annick Raas-Rothschild, Sandra Pohl, Thomas Braulke

16(ii) Multiple Enzyme Deficiencies: Multiple Sulfatase Deficiency

Andrea Ballabio, Graciana Diez-Roux

17 Lysosomal Membrane Defects

Michael Schwake, Paul Saftig

18 Neuronal Ceroid Lipofuscinoses

Jonathan D. Cooper, Ruth E. Williams

19 Other Lysosomal Diseases

Atul Mehta, Bryan Winchester

Part 3: Therapy and Patient Issues

19 Current Treatments

Timothy M. Cox

20 Central Nervous System Aspects, Neurodegeneration and the Blood-Brain Barrier

David J. Begley, Maurizo Scarpa

21 Emerging Treatments / Future Outcome

T. Andrew Burrow, Gregory A. Grabowski

22 Newborn, High Risk and Carrier Screening for LSDs

Gabor E. Linthorst, Carla E.M. Hollak

23 The Patient Perspective on Rare Diseases

Alastair Kent, Christine Lavery, Jeremy Manuel