05078cam a2200685Ia 4500 ocn813987805 OCoLC 20171113131528.0 m o d cr cnu---unuuu 121023s2013 enk ob 001 0 eng d 9781118514641 (electronic bk.) 1118514645 (electronic bk.) 9781118514672 (electronic bk.) 111851467X (electronic bk.) 9781283644419 (MyiLibrary) 128364441X (MyiLibrary) 9781118514696 1118514696 9780470670873 0470670878 AU@ 000050378592 DEBBG BV040884973 DEBSZ 431220263 GBVCP 79019984X NZ1 14836393 NZ1 15340438 DEBBG BV043395138 AU@ 000059229202 (OCoLC)813987805 (OCoLC)815389182 (OCoLC)872697225 N$T eng pn N$T E7B YDXCP OCLCQ UIU DG1 COO OCLCF NLGGC MHW EBLCP CGU MEAUC DEBSZ CNSPO OCLCQ MAIN RC632.L94 WD 205 SCI 017000 bisacsh 571.6/55 23 Lysosomal storage disorders : a practical guide / edited by Atul Mehta, Bryan Winchester. [electronic resource] Chichester, West Sussex : Wiley-Blackwell, 2013. 1 online resource text txt rdacontent computer c rdamedia online resource cr rdacarrier Includes bibliographical references and index. 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. 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 disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced. These diseases present to a very wide range of phy. Print version record. Lysosomal storage diseases. Lysosomal Storage Diseases. Lysosomes pathology. Lysosomal Storage Diseases. Lysosomes pathology. SCIENCE Life Sciences Cell Biology. bisacsh Lysosomal storage diseases. fast (OCoLC)fst01004400 Electronic books. Mehta, Atul B. Winchester, Bryan. Print version: Lysosomal storage disorders. Chichester, West Sussex : Wiley-Blackwell, 2013 9780470670873 (DLC) 2012017385 (OCoLC)793073834 http://onlinelibrary.wiley.com/book/10.1002/9781118514672 Wiley Online Library ddc BK 206229 206229