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Lysosomal Storage Disorders
A Practical Guide
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Main description:

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


Back cover:

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


Contents:

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


PRODUCT DETAILS

ISBN-13: 9781118514672
Publisher: John Wiley & Sons Ltd (Wiley–Blackwell)
Publication date: November, 2012
Pages: 208
Dimensions: 150.00 x 250.00 x 15.00
Weight: 666g
Availability: Availability uncertain
Subcategories: Diseases and Disorders

MEET THE AUTHOR

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

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