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. Lysosomal Storage Disorders: A
Practical Guide is the fruit of an ambitious project aiming to
review both the scientific and the clinical aspects of lysosomal
storage disorders, resulting in
this accessible volume, which gives an up-to-date overview of the
subject.
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.
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.
Lysosomal Storage Disorders: A Practical Guide 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.
Titles of related interest
Haematology at a Glance * Mehta * ISBN
9781405179706
Atlas of Endocrine and Metabolic Disease * Pozzilli * ISBN 9780470656273
Mục lục
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 Ingeborg
Krägeloh-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 Øivind
Nilssen
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 the
Blood-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 Lysosomal
Storage 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
Giới thiệu về tác giả
Edited by
Atul Mehta, Professor of Haematology, University College London,
Royal Free Hospital, London, UK
Bryan Winchester, Emeritus Professor of Biochemistry, UCL Institute of Child Health
at Great Ormond Street Hospital, University College London, London, UK
Thêm sách điện tử từ cùng một tác giả / Biên tập viên
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