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Note: Supplemental materials are not guaranteed with Rental or Used book purchases.
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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, 3Matthew C. Micsenyi and Steven U. Walkley
2 Clinical Aspects and Clinical Diagnosis, 13J. Edmond Wraith and Michael Beck
3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20Bryan Winchester
4 Genetics of Lysosomal Storage Disorders and Counselling, 29John J. Hopwood
5 Classification of Lysosomal Storage Diseases, 37Bryan Winchester
Part 2 The Individual Diseases, 47
6 Gaucher Disease, 49Deborah Elstein and Ari Zimran
7 Fabry Disease, 58Atul Mehta and Uma Ramaswami
8 The Gangliosidoses, 63Joe T.R. Clarke
9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 70Volkmar Gieselmann, David A. Wenger and Ingeborg Krägeloh-Mann
10 Types A and B Niemann–Pick Disease, 80Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman
11 Niemann–Pick Disease Type C, 87Marie T. Vanier and Marc C. Patterson
12 The Mucopolysaccharidoses, 94Roberto Giugliani
13 Pompe Disease, 101Arnold J.J. Reuser and Ans T. van der Ploeg
14 Glycoproteinoses, 107Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen
15 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 115Alessandra 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, 121Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke
16.2 Multiple Sulfatase Deficiency, 127Graciana Diez-Roux and Andrea Ballabio
17 Lysosomal Membrane Defects, 131Michael Schwake and Paul Saftig
18 Neuronal Ceroid Lipofuscinoses, 137Jonathan D. Cooper and Ruth E. Williams
19 Other Lysosomal Disorders, 142Bryan Winchester and Timothy M. Cox
Part 3 Therapy and Patient Issues, 151
20 Current Treatments, 153Timothy M. Cox
21 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier, 166David J. Begley and Maurizio Scarpa
22 Emerging Treatments and Future Outcomes, 174T. Andrew Burrow and Gregory A. Grabowski
23 Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders, 181Gabor E. Linthorst and Carla E.M. Hollak
24 The Patient Perspective on Rare Diseases, 186Alastair Kent, Christine Lavery, and Jeremy Manuel
Index, 193
The New copy of this book will include any supplemental materials advertised. Please check the title of the book to determine if it should include any access cards, study guides, lab manuals, CDs, etc.
The Used, Rental and eBook copies of this book are not guaranteed to include any supplemental materials. Typically, only the book itself is included. This is true even if the title states it includes any access cards, study guides, lab manuals, CDs, etc.