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Foreword
Preface
Part 1: General Aspects of Lysosomal Storage Diseases
1 The Lysosomal System: Physiology and Pathology
Matthew C. Micsenyi, Steven U. Walkley
2 Clinical Aspects and Clinical Diagnosis
Ed Wraith, Michael Beck
3 Laboratory Diagnosis of LSDs
Bryan Winchester
4 Genetics of Lysosomal Storage Disorders and Counseling
John J. Hopwood
5 Integrated Classification
Bryan Winchester
Part 2: The Individual Diseases
6 Gaucher Disease
Deborah Elstein, Ari Zimran
7 Fabry Disease
Atul Mehta, Uma Ramaswami
8 The Gangliosidoses
Joe T.R. Clarke
9 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy
Volkmar Gieselmann, David A. Wenger, Ingeborg Krägeloh-Mann
10 Types A and B Niemann-Pick Disease
Melissa P. Wasserstein, Robert J. Desnick, Edward H. Schuchman
11 Niemann-Pick Disease Type C
Marie T. Vanier, Marc C. Patterson
12 The Mucopolysaccharidoses
Roberto Giugliani
13 Pompe Disease
Arnold J. J. Reuser, Ans T. van der Ploeg
14 Glycoproteinoses
Dag Malm, Hilde Monica F. Riise Stensland, Øivind Nilssen
15 Multiple Enzyme Deficiencies: Defect in Protective Protein/Cathepsin A: Galactosialidosis
Alessandra d’Azzo, Erik J. Bonten
16(i) Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma
Annick Raas-Rothschild, Sandra Pohl, Thomas Braulke
16(ii) Multiple Enzyme Deficiencies: Multiple Sulfatase Deficiency
Andrea Ballabio, Graciana Diez-Roux
17 Lysosomal Membrane Defects
Michael Schwake, Paul Saftig
18 Neuronal Ceroid Lipofuscinoses
Jonathan D. Cooper, Ruth E. Williams
19 Other Lysosomal Diseases
Atul Mehta, Bryan Winchester
Part 3: Therapy and Patient Issues
19 Current Treatments
Timothy M. Cox
20 Central Nervous System Aspects, Neurodegeneration and the Blood-Brain Barrier
David J. Begley, Maurizo Scarpa
21 Emerging Treatments / Future Outcome
T. Andrew Burrow, Gregory A. Grabowski
22 Newborn, High Risk and Carrier Screening for LSDs
Gabor E. Linthorst, Carla E.M. Hollak
23 The Patient Perspective on Rare Diseases
Alastair Kent, Christine Lavery, Jeremy Manuel
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Add Lysosomal Storage Disorders: A Practical Guide, Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the, Lysosomal Storage Disorders: A Practical Guide to the inventory that you are selling on WonderClubX
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Add Lysosomal Storage Disorders: A Practical Guide, Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the, Lysosomal Storage Disorders: A Practical Guide to your collection on WonderClub |