| 000 | 05382cam a2200769Ia 4500 | ||
|---|---|---|---|
| 001 | ocn813987805 | ||
| 003 | OCoLC | ||
| 005 | 20171224114107.0 | ||
| 006 | m o d | ||
| 007 | cr cnu---unuuu | ||
| 008 | 121023s2013 enk ob 001 0 eng d | ||
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_a9781118514641 _q(electronic bk.) |
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_a9781118514672 _q(electronic bk.) |
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| 020 | _a9781118514696 | ||
| 020 | _a1118514696 | ||
| 020 | _z9780470670873 | ||
| 020 | _z0470670878 | ||
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_a(OCoLC)813987805 _z(OCoLC)815389182 _z(OCoLC)872697225 |
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| 050 | 4 | _aRC632.L94 | |
| 060 | 4 | _aWD 205 | |
| 072 | 7 |
_aSCI _x017000 _2bisacsh |
|
| 082 | 0 | 4 |
_a571.6/55 _223 |
| 049 | _aMAIN | ||
| 245 | 0 | 0 |
_aLysosomal storage disorders : _ba practical guide / _cedited by Atul Mehta, Bryan Winchester. |
| 260 |
_aChichester, West Sussex : _bWiley-Blackwell, _c2013. |
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| 300 | _a1 online resource | ||
| 336 |
_atext _btxt _2rdacontent |
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| 337 |
_acomputer _bc _2rdamedia |
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| 338 |
_aonline resource _bcr _2rdacarrier |
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| 504 | _aIncludes bibliographical references and index. | ||
| 505 | 0 | _aThe 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. | |
| 588 | 0 | _aPrint version record. | |
| 520 | _aAwareness 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. | ||
| 650 | 0 | _aLysosomal storage diseases. | |
| 650 | 2 | _aLysosomal Storage Diseases. | |
| 650 | 2 |
_aLysosomes _xpathology. |
|
| 650 | 4 | _aLysosomal Storage Diseases. | |
| 650 | 4 |
_aLysosomes _xpathology. |
|
| 650 | 7 |
_aSCIENCE _xLife Sciences _xCell Biology. _2bisacsh |
|
| 650 | 7 |
_aLysosomal storage diseases. _2fast _0(OCoLC)fst01004400 |
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| 655 | 4 | _aElectronic books. | |
| 700 | 1 | _aMehta, Atul B. | |
| 700 | 1 | _aWinchester, Bryan. | |
| 776 | 0 | 8 |
_iPrint version: _tLysosomal storage disorders. _dChichester, West Sussex : Wiley-Blackwell, 2013 _z9780470670873 _w(DLC) 2012017385 _w(OCoLC)793073834 |
| 856 | 4 | 0 |
_uhttp://onlinelibrary.wiley.com/book/10.1002/9781118514672 _zWiley Online Library |
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