| Contents |
Front Matter -- General Aspects of Lysosomal Storage Diseases. Lysosomal Storage Diseases / Atul Mehta, Bryan Winchester -- The Lysosomal System / Gennaro Napolitano, Frances M Platt, Andrea Ballabio -- The Lysosomal System / Matthew C Micsenyi, Steven U Walkley -- Clinical Aspects and Clinical Diagnosis / Michael Beck -- Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases / Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, Simon Heales -- Newborn Screening for Lysosomal Storage Diseases / Roy WA Peake -- Genetics of Lysosomal Storage Diseases / Maria Fuller, Jack Goldblatt -- Classification of Lysosomal Diseases / Bryan Winchester -- The Individual Diseases. Gaucher Disease / Deborah Elstein, Ari Zimran -- Fabry Disease / Gregory M Pastores, Atul Mehta -- The Gangliosidoses / Michael Beck, Joe TR Clarke, Konrad Sandhoff -- Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy / Volkmar Gieselmann, David A Wenger, Ingeborg Kr̃geloh-Mann -- Types A and B Niemann-Pick Disease / Melissa P Wasserstein, Robert J Desnick, Edward H Schuchman -- Niemann-Pick Disease Type C / Marie T Vanier, Frances M Platt, Emily R Eden, Marc C Patterson -- Other Lipidoses / Thierry Levade, Jeffrey A Medin, Donna L Bernstein, Manisha Balwani, Gregory A Grabowski -- The Mucopolysaccharidoses / Roberto Giugliani, Uma Ramaswami, Anna Tylki-SzymaDska, Barbara K Burton, James Davison, Chris Hendriksz, Young Bae Sohn, Paul Harmatz, Erin Jozwiak, Torayuki Okuyama, Adriana M Montąo, William S Sly, Barbara Triggs-Raine, Promita Ghosh, Marvin Natowicz -- Pompe Disease / Arnold JJ Reuser, Ans T Ploeg, Priya S Kishnani, WWM Pim Pijnappel -- Glycoproteinoses / Dag Malm, Hilde Monica Frostad Riise Stensland, Øivind Nilssen -- Defect in Protective Protein/Cathepsin A / Alessandra d'Azzo, Diantha Vlekkert, Ida Annunziata -- Multiple Enzyme Deficiencies / Nicole M Muschol, Cornelia Rudolph, Thomas Braulke, Nicola Brunetti-Pierri, Graciana Diez-Roux, Andrea Ballabio -- Lysosomal Membrane Defects / Michael Schwake, Paul Saftig -- Neuronal Ceroid Lipofuscinoses / Jonathan D Cooper, Sara E Mole, Angela Schulz, Ruth E Williams -- Miscellaneous Disorders of the Lysosome / Timothy M Cox, Bryan Winchester -- Therapy and Patient Issues. Current Treatment / Michael Beck -- Central Nervous System Aspects, Neurodegeneration, and the Blood-Brain Barrier / David J Begley, Cinzia M Bellettato, Maurizio Scarpa -- Emerging Therapies / Gregory A Grabowski, Derralynn Hughes -- Lysosomal Storage Diseases in the Developing World / Chris Hendriksz, Atul Mehta -- The Patient Perspective on Rare Diseases / Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, George Timmins -- Index |
