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 W.A. 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 Krägeloh-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 [and others] -- Pompe disease / Arnold JJ Reuser, Ans T Ploeg, Priya S Kishnani, W.W.M. 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 [and others] -- 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.