Table
of Contents
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Foreword |
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Preface |
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PART 1 |
GENERAL ASPECTS OF LYSOSOMAL STORAGE DISEASES |
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1 |
The Lysosomal
System: Physiology and Pathology Matthew C. Micsenyi, Steven U. Walkley |
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2 |
Clinical Aspects and
Clinical Diagnosis Ed
Wraith, Michael Beck |
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3 |
Laboratory Diagnosis of
LSDs Bryan Winchester |
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4 |
Genetics of Lysosomal Storage Disorders and
Counseling John J.
Hopwood |
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5 |
Integrated
Classification Bryan
Winchester |
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PART 2 |
THE INDIVIDUAL DISEASES |
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6 |
Gaucher
Disease Deborah Elstein, Ari Zimran |
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7 |
Fabry
Disease Atul Mehta, Uma Ramaswami |
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8 |
The Gangliosidoses Joe T.R. Clarke |
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9 |
Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy Volkmar Gieselmann,
David A. Wenger, Ingeborg Krägeloh-Mann |
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10 |
Types A and B Niemann-Pick Disease Melissa P. Wasserstein, Robert J. Desnick, Edward H. Schuchman |
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11 |
Niemann-Pick
Disease Type C Marie
T. Vanier, Marc C. Patterson |
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12 |
The Mucopolysaccharidoses Roberto Giugliani |
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13 |
Pompe
Disease |
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14 |
Glycoproteinoses Dag Malm, Hilde Monica F. Riise Stensland, Øivind Nilssen |
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15 |
Multiple Enzyme
Deficiencies: Defect in Protective Protein/Cathepsin
A: Galactosialidosis Alessandra d’Azzo,
Erik J. Bonten |
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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 |
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16(ii) |
Multiple Enzyme
Deficiencies: Multiple Sulfatase
Deficiency Andrea Ballabio, Graciana Diez-Roux |
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17 |
Lysosomal
Membrane Defects Michael
Schwake, Paul Saftig |
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18 |
Neuronal Ceroid Lipofuscinoses Jonathan D. Cooper, Ruth E. Williams |
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19 |
Other Lysosomal Diseases Atul Mehta, Bryan Winchester |
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PART 3 |
THERAPY AND PATIENT ISSUES |
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19 |
Current Treatments Timothy M. Cox |
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20 |
Central Nervous System
Aspects, Neurodegeneration and the Blood-Brain
Barrier David J.
Begley, Maurizo Scarpa |
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21 |
Emerging Treatments/Future Outcome T.
Andrew Burrow, Gregory A. Grabowski |
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22 |
Newborn, High Risk and Carrier
Screening for LSDs Gabor E. Linthorst,
Carla E.M. Hollak |
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23 |
The Patient Perspective
on Rare Diseases Alastair Kent,
Christine Lavery, Jeremy Manuel |
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Index |
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