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_a10.1002/9781119697312 _2doi |
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| 035 | _a(OCoLC)1325677592 | ||
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_aQU 265.5.L9 _bL993 2022 |
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| 130 | 0 | _aLysosomal storage disorders (Mehta) | |
| 245 | 1 | 0 |
_aLysosomal storage disorders : _ba practical guide / _cedited by Atul B Mehta, Bryan Winchester |
| 250 | _aSecond edition | ||
| 264 | 1 |
_aHoboken, NJ : _bWiley-Blackwell, _c2022. |
|
| 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 | _aBIBINDX | ||
| 505 | 0 | _aFront Matter -- General Aspects of Lysosomal Storage Diseases. Lysosomal Storage Diseases / Atul Mehta, Bryan Winchester -- The Lysosomal System / Gennaro Napolitano, Frances M Platt, Andrea Ballabio -- The Lysosomal System / Matthew C Micsenyi, Steven U Walkley -- Clinical Aspects and Clinical Diagnosis / Michael Beck -- Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases / Bryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, Simon Heales -- Newborn Screening for Lysosomal Storage Diseases / Roy WA Peake -- Genetics of Lysosomal Storage Diseases / Maria Fuller, Jack Goldblatt -- Classification of Lysosomal Diseases / Bryan Winchester -- The Individual Diseases. Gaucher Disease / Deborah Elstein, Ari Zimran -- Fabry Disease / Gregory M Pastores, Atul Mehta -- The Gangliosidoses / Michael Beck, Joe TR Clarke, Konrad Sandhoff -- Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy / Volkmar Gieselmann, David A Wenger, Ingeborg Krägeloh-Mann -- Types A and B Niemann-Pick Disease / Melissa P Wasserstein, Robert J Desnick, Edward H Schuchman -- Niemann-Pick Disease Type C / Marie T Vanier, Frances M Platt, Emily R Eden, Marc C Patterson -- Other Lipidoses / Thierry Levade, Jeffrey A Medin, Donna L Bernstein, Manisha Balwani, Gregory A Grabowski -- The Mucopolysaccharidoses / Roberto Giugliani, Uma Ramaswami, Anna Tylki-Szymańska, Barbara K Burton, James Davison, Chris Hendriksz, Young Bae Sohn, Paul Harmatz, Erin Jozwiak, Torayuki Okuyama, Adriana M Montaño, William S Sly, Barbara Triggs-Raine, Promita Ghosh, Marvin Natowicz -- Pompe Disease / Arnold JJ Reuser, Ans T Ploeg, Priya S Kishnani, WWM Pim Pijnappel -- Glycoproteinoses / Dag Malm, Hilde Monica Frostad Riise Stensland, Øivind Nilssen -- Defect in Protective Protein/Cathepsin A / Alessandra d'Azzo, Diantha Vlekkert, Ida Annunziata -- Multiple Enzyme Deficiencies / Nicole M Muschol, Cornelia Rudolph, Thomas Braulke, Nicola Brunetti-Pierri, Graciana Diez-Roux, Andrea Ballabio -- Lysosomal Membrane Defects / Michael Schwake, Paul Saftig -- Neuronal Ceroid Lipofuscinoses / Jonathan D Cooper, Sara E Mole, Angela Schulz, Ruth E Williams -- Miscellaneous Disorders of the Lysosome / Timothy M Cox, Bryan Winchester -- Therapy and Patient Issues. Current Treatment / Michael Beck -- Central Nervous System Aspects, Neurodegeneration, and the Blood-Brain Barrier / David J Begley, Cinzia M Bellettato, Maurizio Scarpa -- Emerging Therapies / Gregory A Grabowski, Derralynn Hughes -- Lysosomal Storage Diseases in the Developing World / Chris Hendriksz, Atul Mehta -- The Patient Perspective on Rare Diseases / Tanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, George Timmins -- Index | |
| 520 |
_a"This book is the fruit of an ambitious project which aims to review both the scientific and the clinical aspects of lysosomal storage disorders. We perceive a need for an accessible volume giving an up to date overview of the subject. Even when effective treatments are available, there remains an urgent need to highlight awareness of the diseases so that early and appropriate treatment may be sought [7]. Furthermore, in a rapidly changing world, there is a real need to improve access to expensive treatments. The first section of the book reviews current understanding of the physiology and pathophysiology of lysosomal storage disorders and we again to attempt to classify the conditions. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. The book is aimed at a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations"-- _cProvided by publisher |
||
| 650 | 1 | 2 |
_aLysosomal Storage Diseases. _0https://id.nlm.nih.gov/mesh/D016464 |
| 650 | 2 | 2 |
_aLysosomes _xpathology. _0https://id.nlm.nih.gov/mesh/D008247Q000473 |
| 655 | 0 |
_aElectronic books _92032 |
|
| 700 | 1 |
_aMehta, Atul B., _0http://id.loc.gov/authorities/names/n99802403 _eeditor |
|
| 700 | 1 |
_aWinchester, Bryan, _0http://id.loc.gov/authorities/names/n2012184326 _eeditor |
|
| 856 | 4 | 0 |
_3Wiley Online Library _zConnect to resource _uhttps://onlinelibrary.wiley.com/doi/book/10.1002/9781119697312 |
| 942 |
_2NLM _cEBK |
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