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" Lysosomal storage disorders : "
edited by Atul Mehta, Bryan Winchester.
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BL
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| Record Number
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657665
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dltt
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| Title & Author
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Lysosomal storage disorders : : a practical guide /\ edited by Atul Mehta, Bryan Winchester.
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1 online resource
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| ISBN
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9781118514641 (electronic bk.)
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: 1118514645 (electronic bk.)
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: 9781118514672 (electronic bk.)
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: 111851467X (electronic bk.)
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9780470670873
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0470670878
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: 9781283644419 (MyiLibrary)
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: 128364441X (MyiLibrary)
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| Bibliographies/Indexes
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Includes bibliographical references and index
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| Contents
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The lysosomal system : physiology and pathology / Matthew C. Micsenyi and Steven U. Walkley -- Clinical aspects and clinical diagnosis / Ed Wraith and Michael Beck -- Laboratory diagnosis of lysosomal storage diseases / Bryan Winchester -- Genetics of lysosomal storage disorders and counseling / John J. Hopwood -- Classification of lysosomal storage diseases / Bryan Winchester -- Gaucher disease / Deborah Elstein and Ari Zimran -- Fabry disease / Atul Mehta and Uma Ramaswami -- The gangliosidoses / Joe T.R. Clarke -- Metachromatic leukodystrophy and globoid cell leukodystrophy / Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann -- Types A and B Niemannpick disease / Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman -- Niemannpick disease type C / Marie T. Vanier and Marc C. Patterson -- The mucopolysaccharidoses / Roberto Giugliani -- Pompe disease / Arnold J.J. Reuser and Ans T. van der Ploeg -- Glycoproteinoses / Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen -- Defect in protective protein/cathepsin A : galactosialidosis / Alessandra d'Azzo and Erik J. Bonten -- Multiple enzyme deficiencies -- Defects in transport : mucolipidosis II; mucolipidosis III, and mucolipidosis III / Annick Raas-Rothschild, Sandra Pohl, and Thomas Braulke -- Multiple sulfatase deficiency / Graciana Diez-Roux and Andrea Ballabio -- Lysosomal membrane defects / Michael Schwake and Paul Saftig -- Neuronal ceroid lipofuscinoses / Jonathan D. Cooper and Ruth E. Williams -- Other lysosomal disorders / Bryan Winchester and Timothy M. Cox -- Current treatments / Timothy M. Cox -- Central nervous system aspects, neurodegeneration, and the bloodbrain barrier / David J. Begley and Maurizio Scarpa -- Emerging treatments and future outcomes / T. Andrew Burrow and Gregory A. Grabowski -- Newborn, high risk, and carrier screening for lysosomal storage disorders / Gabor E. Linthorst and Carla E.M. Hollak -- The patient perspective on rare diseases / Alastair Kent, Christine Lavery, and Jeremy Manuel
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| Subject
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Lysosomal storage diseases.
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Lysosomal Storage Diseases.
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Lysosomes-- pathology.
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| Dewey Classification
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571.6/55
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| LC Classification
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RC632.L94
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| NLM classification
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WD 205
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| Added Entry
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Mehta, Atul B.
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Winchester, Bryan.
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| Added Entry
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Ohio Library and Information Network.
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Wiley Online Library (Online service)
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