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Title Lysosomal storage disorders [electronic resource] : a practical guide / edited by Atul Mehta, Bryan Winchester.
Publication Info. Chichester, West Sussex ; Hoboken, NJ : Wiley-Blackwell, 2012.

Location Call No. Status Notes
 Libraries Electronic Books  ELECTRONIC BOOKS-DDA    AVAIL. ONLINE
Description 1 online resource.
Note Description based on print version record.
Bibliography Includes bibliographical references and index.
Contents 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.
Reproduction Electronic reproduction. Perth, W.A. Available via World Wide Web.
Note Description based on print version record.
Subject Lysosomal storage diseases.
Lysosomal Storage Diseases.
Lysosomes -- pathology.
Added Author Mehta, Atul B.
Winchester, Bryan.
Ebooks Corporation
Related To Original 9780470670873 0470670878 (DLC) 2012017385
ISBN 1118514645 (electronic bk.)
9781118514641 (electronic bk.)
9780470670873 (pbk. : alk. paper)
0470670878 (pbk. : alk. paper)
OCLC # EBC1023289
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