rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Lysosomal storage disorders
    sub title: a practical guide
  name:
    name part: Mehta, Atul B.
  name:
    name part: Winchester, Bryan.
  type of resource: text
  genre: bibliography
  genre: Electronic books.
  origin info:
    place:
      place term: enk
    date issued: 2013
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 1 online resource
  abstract: 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.
  table of 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…
  note: edited by Atul Mehta, Bryan Winchester.
  note: Includes bibliographical references and index.
  subject:
    topic: Lysosomal storage diseases
  subject:
    topic: Lysosomal Storage Diseases
  subject:
    topic: Lysosomes
    topic: pathology
  subject:
    topic: Lysosomal Storage Diseases
  subject:
    topic: Lysosomes
    topic: pathology
  subject:
    topic: SCIENCE
    topic: Life Sciences
    topic: Cell Biology
  subject:
    topic: Lysosomal storage diseases
  classification: RC632.L94
  classification: 571.6/55
  classification: WD 205
  related item:
    title info:
      title: Lysosomal storage disorders
    origin info:
      publisher: Chichester, West Sussex : Wiley-Blackwell, 2013
    identifier: (DLC) 2012017385
    identifier: (OCoLC)793073834
  identifier: 9781118514641
  identifier: 1118514645
  identifier: 9781118514672
  identifier: 111851467X
  identifier: 9781283644419
  identifier: 128364441X
  identifier: 9781118514696
  identifier: 1118514696
  identifier: 9780470670873
  identifier: 0470670878
  identifier: https://doi.org/10.1002/9781118514672
  record info:
    record content source: N$T
    record creation date: 121023
    record change date: 20170124071239.4
    record identifier: ocn813987805
    language of cataloging:
      language term: eng