000 05091cam a2200709Ia 4500
001 ocn813987805
003 OCoLC
005 20230823095529.0
006 m o d
007 cr cnu---unuuu
008 121023s2013 enk ob 001 0 eng d
040 _aN$T
_beng
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019 _a815389182
_a872697225
020 _a9781118514641
_q(electronic bk.)
020 _a1118514645
_q(electronic bk.)
020 _a9781118514672
_q(electronic bk.)
020 _a111851467X
_q(electronic bk.)
020 _a9781283644419
_q(MyiLibrary)
020 _a128364441X
_q(MyiLibrary)
020 _a9781118514696
020 _a1118514696
020 _z9780470670873
020 _z0470670878
029 1 _aAU@
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029 1 _aDEBBG
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029 1 _aDEBSZ
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029 1 _aAU@
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035 _a(OCoLC)813987805
_z(OCoLC)815389182
_z(OCoLC)872697225
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.
300 _a1 online resource
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
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
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://dx.doi.org/10.1002/9781118514672
_zWiley Online Library
994 _a92
_bDG1
999 _c19872
_d19831
526 _bls