Lysosomal Storage Disorders

List of Contributors, v
Preface, viii
Foreword, x
Part 1 General Aspects of Lysosomal Storage Diseases,1
1 The Lysosomal System: Physiology and Pathology, 3
Matthew C. Micsenyi and Steven U. Walkley
2 Clinical Aspects and Clinical Diagnosis, 13
J. Edmond Wraith and Michael Beck
3 Laboratory Diagnosis of Lysosomal Storage Diseases, 20
Bryan Winchester
4 Genetics of Lysosomal Storage Disorders and Counselling,29
John J. Hopwood
5 Classification of Lysosomal Storage Diseases, 37
Bryan Winchester
Part 2 The Individual Diseases, 47
6 Gaucher Disease, 49
Deborah Elstein and Ari Zimran
7 Fabry Disease, 58
Atul Mehta and Uma Ramaswami
8 The Gangliosidoses, 63
Joe T.R. Clarke
9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy,70
Volkmar Gieselmann, David A. Wenger and IngeborgKrägeloh-Mann
10 Types A and B Niemann-Pick Disease, 80
Melissa P. Wasserstein, Robert J. Desnick, and Edward H.Schuchman
11 Niemann-Pick Disease Type C, 87
Marie T. Vanier and Marc C. Patterson
12 The Mucopolysaccharidoses, 94
Roberto Giugliani
13 Pompe Disease, 101
Arnold J.J. Reuser and Ans T. van der Ploeg
14 Glycoproteinoses, 107
Dag Malm, Hilde Monica F. Riise Stensland and ØivindNilssen
15 Defect in Protective Protein/Cathepsin A: Galactosialidosis,115
Alessandra 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, 121
Annick Raas-Rothschild, Sandra Pohl and Thomas Braulke
16.2 Multiple Sulfatase Deficiency, 127
Graciana Diez-Roux and Andrea Ballabio
17 Lysosomal Membrane Defects, 131
Michael Schwake and Paul Saftig
18 Neuronal Ceroid Lipofuscinoses, 137
Jonathan D. Cooper and Ruth E. Williams
19 Other Lysosomal Disorders, 142
Bryan Winchester and Timothy M. Cox
Part 3 Therapy and Patient Issues, 151
20 Current Treatments, 153
Timothy M. Cox
21 Central Nervous System Aspects, Neurodegeneration and theBlood-Brain Barrier, 166
David J. Begley and Maurizio Scarpa
22 Emerging Treatments and Future Outcomes, 174
T. Andrew Burrow and Gregory A. Grabowski
23 Newborn, High Risk and Carrier Screening for LysosomalStorage Disorders, 181
Gabor E. Linthorst and Carla E.M. Hollak
24 The Patient Perspective on Rare Diseases, 186
Alastair Kent, Christine Lavery, and Jeremy Manuel
Index, 193