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Einband grossLysosomal Storage Disorders
ISBN/GTIN

Lysosomal Storage Disorders

E-BookEPUB2 - DRM Adobe / EPUBE-Book
208 Seiten
Englisch
John Wiley & Sonserschienen am06.09.20121. Auflage
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
mehr

Produkt

KlappentextThe 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
Details
Weitere ISBN/GTIN9781118514696
ProduktartE-Book
EinbandartE-Book
FormatEPUB
Format Hinweis2 - DRM Adobe / EPUB
FormatFormat mit automatischem Seitenumbruch (reflowable)
Erscheinungsjahr2012
Erscheinungsdatum06.09.2012
Auflage1. Auflage
Seiten208 Seiten
SpracheEnglisch
Dateigrösse5411 Kbytes
Artikel-Nr.2881218
Rubriken
Genre9201

Inhalt/Kritik

Inhaltsverzeichnis
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
mehr