Details

<p>List of Contributors, v</p> <p>Preface, viii</p> <p>Foreword, x</p> <p><b>Part 1 General Aspects of Lysosomal Storage Diseases, 1</b></p> <p>1 The Lysosomal System: Physiology and Pathology, 3<br /> <i>Matthew C. Micsenyi and Steven U. Walkley</i></p> <p>2 Clinical Aspects and Clinical Diagnosis, 13<br /> <i>J. Edmond Wraith and Michael Beck</i></p> <p>3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20<br /> <i>Bryan Winchester</i></p> <p>4 Genetics of Lysosomal Storage Disorders and Counselling, 29<br /> <i>John J. Hopwood</i></p> <p>5 Classification of Lysosomal Storage Diseases, 37<br /> <i>Bryan Winchester</i></p> <p><b>Part 2 The Individual Diseases, 47</b></p> <p>6 Gaucher Disease, 49<br /> <i>Deborah Elstein and Ari Zimran</i></p> <p>7 Fabry Disease, 58<br /> <i>Atul Mehta and Uma Ramaswami</i></p> <p>8 The Gangliosidoses, 63<br /> <i>Joe T.R. Clarke</i></p> <p>9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 70<br /> <i>Volkmar Gieselmann, David A. Wenger and Ingeborg Krägeloh-Mann</i></p> <p>10 Types A and B Niemann–Pick Disease, 80<br /> <i>Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman</i></p> <p>11 Niemann–Pick Disease Type C, 87<br /> <i>Marie T. Vanier and Marc C. Patterson</i></p> <p>12 The Mucopolysaccharidoses, 94<br /> <i>Roberto Giugliani</i></p> <p>13 Pompe Disease, 101<br /> <i>Arnold J.J. Reuser and Ans T. van der Ploeg</i></p> <p>14 Glycoproteinoses, 107<br /> <i>Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen</i></p> <p>15 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 115<br /> <i>Alessandra d’Azzo and Erik J. Bonten</i></p> <p>16 Multiple Enzyme Deficiencies, 121</p> <p>16.1 Defects in Transport: Mucolipidosis II alpha/beta, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 121<br /> <i>Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke</i></p> <p>16.2 Multiple Sulfatase Deficiency, 127<br /> <i>Graciana Diez-Roux and Andrea Ballabio</i></p> <p>17 Lysosomal Membrane Defects, 131<br /> <i>Michael Schwake and Paul Saftig</i></p> <p>18 Neuronal Ceroid Lipofuscinoses, 137<br /> <i>Jonathan D. Cooper and Ruth E. Williams</i></p> <p>19 Other Lysosomal Disorders, 142<br /> <i>Bryan Winchester and Timothy M. Cox</i></p> <p><b>Part 3 Therapy and Patient Issues, 151</b></p> <p>20 Current Treatments, 153<br /> <i>Timothy M. Cox</i></p> <p>21 Central Nervous System Aspects, Neurodegeneration and the Blood–Brain Barrier, 166<br /> <i>David J. Begley and Maurizio Scarpa</i></p> <p>22 Emerging Treatments and Future Outcomes, 174<br /> <i>T. Andrew Burrow and Gregory A. Grabowski</i></p> <p>23 Newborn, High Risk and Carrier Screening for Lysosomal Storage Disorders, 181<br /> <i>Gabor E. Linthorst and Carla E.M. Hollak</i></p> <p>24 The Patient Perspective on Rare Diseases, 186<br /> <i>Alastair Kent, Christine Lavery, and Jeremy Manuel</i></p> <p>Index, 193</p>

<b>Edited by</b><br /><b>Atul Mehta</b>, Professor of Haematology, University College London,<br />Royal Free Hospital, London, UK<br /><br /><b>Bryan Winchester</b>, Emeritus Professor of Biochemistry, UCL Institute of Child Health<br />at Great Ormond Street Hospital, University College London, London, UK

<p>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. <i>Lysosomal Storage Disorders: A Practical Guide</i> is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in<br /> this accessible volume, which gives an up-to-date overview of the subject.</p> <p>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.</p> <p>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.</p> <p><i>Lysosomal Storage Disorders: A Practical Guide</i> 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.<br /> <br /> <b>Titles of related interest</b><br /> Haematology at a Glance • Mehta • ISBN 9781405179706<br /> <br /> Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273</p>