000			05078cam a2200685Ia 4500
001			ocn813987805
003			OCoLC
005			20171113131528.0
006			m o d
007			cr cnu---unuuu
008			121023s2013 enk ob 001 0 eng d
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@ _b000050378592
029	1		_aDEBBG _bBV040884973
029	1		_aDEBSZ _b431220263
029	1		_aGBVCP _b79019984X
029	1		_aNZ1 _b14836393
029	1		_aNZ1 _b15340438
029	1		_aDEBBG _bBV043395138
029	1		_aAU@ _b000059229202
035			_a(OCoLC)813987805 _z(OCoLC)815389182 _z(OCoLC)872697225
040			_aN$T _beng _epn _cN$T _dE7B _dYDXCP _dOCLCQ _dUIU _dDG1 _dCOO _dOCLCF _dNLGGC _dMHW _dEBLCP _dCGU _dMEAUC _dDEBSZ _dCNSPO _dOCLCQ
049			_aMAIN
050		4	_aRC632.L94
060		4	_aWD 205
072		7	_aSCI _x017000 _2bisacsh
082	0	4	_a571.6/55 _223
245	0	0	_aLysosomal storage disorders : a practical guide / _cedited by Atul Mehta, Bryan Winchester. _h[electronic resource]
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.
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.
588	0		_aPrint version record.
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://onlinelibrary.wiley.com/book/10.1002/9781118514672 _zWiley Online Library
942			_2ddc _cBK
999			_c206229 _d206229