Lysosomal storage disorders
Subtitle: a practical guide
By: edited by Atul Mehta, Bryan Winchester
Publisher: Wiley-Blackwell
Published: 2013
Place of publication: Chichester, West Sussex
Language: eng
ISBN-13: 9780470670873
Subjects: Pathology; Lysosomal Storage Diseases; Lysosomes
Notes: Includes bibliographical references and index.
Table of contents: title: The lysosomal system : physiology and pathology / Matthew C. Micsenyi and Steven U. Walkley; title: Clinical aspects and clinical diagnosis / Ed Wraith and Michael Beck; title: Laboratory diagnosis of lysosomal storage diseases / Bryan Winchester; title: Genetics of lysosomal storage disorders and counseling / John J. Hopwood; title: Classification of lysosomal storage diseases / Bryan Winchester; title: Gaucher disease / Deborah Elstein and Ari Zimran; title: Fabry disease / Atul Mehta and Uma Ramaswami; title: The gangliosidoses / Joe T.R. Clarke; title: Metachromatic leukodystrophy and globoid cell leukodystrophy / Volkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann; title: Types A and B Niemannpick disease / Melissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman; title: Niemannpick disease type C / Marie T. Vanier and Marc C. Patterson; title: The mucopolysaccharidoses / Roberto Giugliani; title: Pompe disease / Arnold J.J. Reuser and Ans T. van der Ploeg; title: Glycoproteinoses / Dag Malm, Hilde Monica F. Riise Stensland and Øivind Nilssen; title: Defect in protective protein/cathepsin A : galactosialidosis / Alessandra d'Azzo and Erik J. Bonten; title: Multiple enzyme deficiencies; title: Defects in transport : mucolipidosis II; mucolipidosis III, and mucolipidosis III / Annick Raas-Rothschild, Sandra Pohl, and Thomas Braulke; title: Multiple sulfatase deficiency / Graciana Diez-Roux and Andrea Ballabio; title: Lysosomal membrane defects / Michael Schwake and Paul Saftig; title: Neuronal ceroid lipofuscinoses / Jonathan D. Cooper and Ruth E. Williams; title: Other lysosomal disorders / Bryan Winchester and Timothy M. Cox; title: Current treatments / Timothy M. Cox; title: Central nervous system aspects, neurodegeneration, and the bloodbrain barrier / David J. Begley and Maurizio Scarpa; title: Emerging treatments and future outcomes / T. Andrew Burrow and Gregory A. Grabowski; title: Newborn, high risk, and carrier screening for lysosomal storage disorders / Gabor E. Linthorst and Carla E.M. Hollak; title: The patient perspective on rare diseases / Alastair Kent, Christine Lavery, and Jeremy Manuel.