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Lysosomal Storage Disorders
Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders
In the past few decades, we have witnessed a 'golden age' of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include:
The general aspects of LSDs, with special attention paid to physiology and pathology
Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs
Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses
Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism
The existing and emerging treatments for LSDs
Key patient issues such as availability and disease awareness, including in the Third World.
For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.
Contents
Contributors, viii
Foreword, xiii
Preface to the First Edition, xiv
Preface to the Second Edition, xvi
Part 1 General Aspects of Lysosomal Storage Diseases, 1
1 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3
Atul Mehta and Bryan Winchester
2 The Lysosomal System: Physiology, 9
Gennaro Napolitano, Frances M. Platt, and Andrea Ballabio
3 The Lysosomal System: Pathology, 19
Matthew C. Micsenyi and Steven U. Walkley
4 Clinical Aspects and Clinical Diagnosis, 31
Michael Beck
5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38
Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales
6 Newborn Screening for Lysosomal Storage Diseases, 51
Roy W.A. Peake
7 Genetics of Lysosomal Storage Diseases, 59
Maria Fuller and Jack Goldblatt
8 Classification of Lysosomal Diseases, 68
Bryan Winchester
Part 2 The Individual Diseases, 85
9 Gaucher Disease, 87
Deborah Elstein and Ari Zimran
10 Fabry Disease, 98
Gregory M. Pastores and Atul Mehta
11 The Gangliosidoses, 104
Michael Beck, Joe T.R. Clarke, and Konrad Sandhoff
12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114
Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann
13 Types A and B Niemann-Pick Disease, 126
Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman
14 Niemann-Pick Disease Type C, 134
Marie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson
15 Other Lipidoses, 144
15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144
Thierry Levade and Jeffrey A. Medin
15.2 Lysosomal Acid Lipase Deficiency, 148
Donna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski
16 The Mucopolysaccharidoses, 155
16.1 An Introduction, 156
Roberto Giugliani and Uma Ramaswami
16.2 Mucopolysaccharidosis Type I (MPS I), 165
Anna Tylki-Szymanska
16.3 Mucopolysaccharidosis Type II (MPS II), 169
Barbara K. Burton
16.4 Mucopolysaccharidosis Type III (MPS III), 172
James Davison
16.5 Mucopolysaccharidosis Type IV (MPS IV), 176'
Chris Hendriksz and Roberto Giugliani
16.6 Mucopolysaccharidosis Type VI (MPS VI), 179
Young Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama
16.7 Mucopolysaccharidosis Type VII (MPS VII), 184
'Adriana M. Montano and William S. Sly
16.8 Mucopolysaccharidosis Type IX (MPS IX), 191
Barbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz
17 Pompe Disease, 194
Arnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel
18 Glycoproteinoses, 203
Dag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen
19 Defect in Protective Protein/Cathepsin A: Galactosialidosis, 211
Alessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata
20 Multiple Enzyme Deficiencies, 221
20.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha/beta and Mucolipidosis III gamma, 221
Nicole M. Muschol, Cornelia Rudolph, and Thomas Braulke
20.2 Multiple Sulfatase Deficiency, 226
Nicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio
21 Lysosomal Membrane Defects, 232
Michael Schwake and Paul Saftig
22 Neuronal Ceroid Lipofuscinoses, 241
Jonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams
23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247
Timothy M. Cox and Bryan Winchester
Part 3 Therapy and Patient Issues, 265
24 Current Treatment, 267
Michael Beck
25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272
David J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa
26 Emerging Therapies, 287
Gregory A. Grabowski and Derralynn Hughes
27 Lysosomal Storage Diseases in the Developing World, 295
Chris Hendriksz and Atul Mehta
28 The Patient Perspective on Rare Diseases, 299
Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George Timmins
Index, 308
