{"product_id":"lysosomal-storage-disorders-a-practical-guide-hardback-9781119697282","title":"Lysosomal Storage Disorders; A Practical Guide (Hardback) 9781119697282","description":"\u003cfont face=\"Georgia\"\u003e\r\n\u003cp\u003e\u003cfont size=\"6\"\u003eLysosomal Storage Disorders\u003c\/font\u003e\u003cbr\u003e\r\n\u003cfont size=\"5\"\u003eA Practical Guide\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\u003cp\u003e\u003cfont size=\"4\"\u003eAtul B. Mehta (Edited by), AB Mehta (Author), Bryan Winchester (Edited by)\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e9781119697282, Wiley\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eHardback, published 18 August 2022\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e336 pages\u003cbr\u003e25.4 x 17.8 x 2.4 cm, 0.879 kg\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003cp align=\"justify\"\u003e\u003cstrong\u003e\u003cfont size=\"3\"\u003e\u003cp\u003e\u003cb\u003eLysosomal Storage Disorders\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eEnables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eIn the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include:\u003c\/p\u003e \u003cul\u003e \u003cli\u003eThe general aspects of LSDs, with special attention paid to physiology and pathology\u003c\/li\u003e \u003cli\u003eClinical and laboratory diagnosis, including newborn screening and the genetics of LSDs\u003c\/li\u003e \u003cli\u003eIndividual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses\u003c\/li\u003e \u003cli\u003eOther disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism\u003c\/li\u003e \u003cli\u003eThe existing and emerging treatments for LSDs\u003c\/li\u003e \u003cli\u003eKey patient issues such as availability and disease awareness, including in the Third World.\u003c\/li\u003e \u003c\/ul\u003e \u003cp\u003eFor researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.\u003c\/p\u003e\u003c\/font\u003e\u003c\/strong\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e\u003cp\u003eContributors, viii\u003c\/p\u003e \u003cp\u003eForeword, xiii\u003c\/p\u003e \u003cp\u003ePreface to the First Edition, xiv\u003c\/p\u003e \u003cp\u003ePreface to the Second Edition, xvi\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 1 General Aspects of Lysosomal Storage Diseases, 1\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e1 Lysosomal Storage Diseases: Historic Landmarks and Scientific Principles, 3\u003cbr\u003e\u003ci\u003eAtul Mehta and Bryan Winchester\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e2 The Lysosomal System: Physiology, 9\u003cbr\u003e\u003ci\u003eGennaro Napolitano, Frances M. Platt, and Andrea Ballabio\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e3 The Lysosomal System: Pathology, 19\u003cbr\u003e\u003ci\u003eMatthew C. Micsenyi and Steven U. Walkley\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e4 Clinical Aspects and Clinical Diagnosis, 31\u003cbr\u003e\u003ci\u003eMichael Beck\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e5 Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases, 38\u003cbr\u003e\u003ci\u003eBryan Winchester, Clare Beesley, Derek Burke, Katie Harvey, Kevin Mills, and Simon Heales\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e6 Newborn Screening for Lysosomal Storage Diseases, 51\u003cbr\u003e\u003ci\u003eRoy W.A. Peake\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e7 Genetics of Lysosomal Storage Diseases, 59\u003cbr\u003e\u003ci\u003eMaria Fuller and Jack Goldblatt\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e8 Classification of Lysosomal Diseases, 68\u003cbr\u003e\u003ci\u003eBryan Winchester\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 2 The Individual Diseases, 85\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e9 Gaucher Disease, 87\u003cbr\u003e\u003ci\u003eDeborah Elstein and Ari Zimran\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e10 Fabry Disease, 98\u003cbr\u003e\u003ci\u003eGregory M. Pastores and Atul Mehta\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e11 The Gangliosidoses, 104\u003cbr\u003e\u003ci\u003eMichael Beck, Joe T.R. Clarke, and Konrad Sandhoff\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e12 Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy, 114\u003cbr\u003e\u003ci\u003eVolkmar Gieselmann, David A. Wenger, and Ingeborg Krägeloh-Mann\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e13 Types A and B Niemann-Pick Disease, 126\u003cbr\u003e\u003ci\u003eMelissa P. Wasserstein, Robert J. Desnick, and Edward H. Schuchman\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e14 Niemann-Pick Disease Type C, 134\u003cbr\u003e\u003ci\u003eMarie T. Vanier, Frances M. Platt, Emily R. Eden, and Marc C. Patterson\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e15 Other Lipidoses, 144\u003c\/p\u003e \u003cp\u003e15.1 Acid Ceramidase Deficiency: Farber Lipogranulomatosis and Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy, 144\u003cbr\u003e\u003ci\u003eThierry Levade and Jeffrey A. Medin\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e15.2 Lysosomal Acid Lipase Deficiency, 148\u003cbr\u003e\u003ci\u003eDonna L. Bernstein, Manisha Balwani, and Gregory A. Grabowski\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16 The Mucopolysaccharidoses, 155\u003c\/p\u003e \u003cp\u003e16.1 An Introduction, 156\u003cbr\u003e\u003ci\u003eRoberto Giugliani and Uma Ramaswami\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.2 Mucopolysaccharidosis Type I (MPS I), 165\u003cbr\u003e\u003ci\u003eAnna Tylki-Szymanska\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.3 Mucopolysaccharidosis Type II (MPS II), 169\u003cbr\u003e\u003ci\u003eBarbara K. Burton\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.4 Mucopolysaccharidosis Type III (MPS III), 172\u003cbr\u003e\u003ci\u003eJames Davison\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.5 Mucopolysaccharidosis Type IV (MPS IV), 176'\u003cbr\u003e\u003ci\u003eChris Hendriksz and Roberto Giugliani\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.6 Mucopolysaccharidosis Type VI (MPS VI), 179\u003cbr\u003e\u003ci\u003eYoung Bae Sohn, Paul Harmatz, Erin Jozwiak, and Torayuki Okuyama\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.7 Mucopolysaccharidosis Type VII (MPS VII), 184\u003cbr\u003e'\u003ci\u003eAdriana M. Montano and William S. Sly\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e16.8 Mucopolysaccharidosis Type IX (MPS IX), 191\u003cbr\u003e\u003ci\u003eBarbara Triggs-Raine, Promita Ghosh, and Marvin Natowicz\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e17 Pompe Disease, 194\u003cbr\u003e\u003ci\u003eArnold J.J. Reuser, Ans T. van der Ploeg, Priya S. Kishnani, and W.W.M. Pim Pijnappel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e18 Glycoproteinoses, 203\u003cbr\u003e\u003ci\u003eDag Malm, Hilde Monica Frostad Riise Stensland, and Oivind Nilssen\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e19 Defect in Protective Protein\/Cathepsin A: Galactosialidosis, 211\u003cbr\u003e\u003ci\u003eAlessandra d'Azzo, Diantha van de Vlekkert, and Ida Annunziata\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e20 Multiple Enzyme Deficiencies, 221\u003c\/p\u003e \u003cp\u003e20.1 Defects in Transport: Mucolipidosis II, Mucolipidosis III alpha\/beta and Mucolipidosis III gamma, 221\u003cbr\u003e\u003ci\u003eNicole M. Muschol, Cornelia Rudolph, and Thomas Braulke\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e20.2 Multiple Sulfatase Deficiency, 226\u003cbr\u003e\u003ci\u003eNicola Brunetti-Pierri, Graciana Diez-Roux, and Andrea Ballabio\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e21 Lysosomal Membrane Defects, 232\u003cbr\u003e\u003ci\u003eMichael Schwake and Paul Saftig\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e22 Neuronal Ceroid Lipofuscinoses, 241\u003cbr\u003e\u003ci\u003eJonathan D. Cooper, Sara E. Mole, Angela Schulz, and Ruth E. Williams\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e23 Miscellaneous Disorders of the Lysosome: New Pathological Frontiers, 247\u003cbr\u003e\u003ci\u003eTimothy M. Cox and Bryan Winchester\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 3 Therapy and Patient Issues, 265\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e24 Current Treatment, 267\u003cbr\u003e\u003ci\u003eMichael Beck\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e25 Central Nervous System Aspects, Neurodegeneration, and the Blood--Brain Barrier, 272\u003cbr\u003e\u003ci\u003eDavid J. Begley, Cinzia M. Bellettato, and Maurizio Scarpa\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e26 Emerging Therapies, 287\u003cbr\u003e\u003ci\u003eGregory A. Grabowski and Derralynn Hughes\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e27 Lysosomal Storage Diseases in the Developing World, 295\u003cbr\u003e\u003ci\u003eChris Hendriksz and Atul Mehta\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e28 The Patient Perspective on Rare Diseases, 299\u003cbr\u003e\u003ci\u003eTanya Collin-Histed, Jayne Gershkowitz, Bob Stevens, and George Timmins\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIndex, 308\u003c\/p\u003e\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eSubject Areas: Family \u0026amp; health [\u003ca title=\"See our other books on Family \u0026amp; health\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22Family%20\u0026amp;%20health%20%5BVF%5D%22\"\u003eVF\u003c\/a\u003e]\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003c\/font\u003e","brand":"Wiley-Blackwell","offers":[{"title":"Brand New","offer_id":52173819609368,"sku":"9781119697282","price":99.39,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0730\/2037\/5320\/files\/9781119697282.jpg?v=1781173333","url":"https:\/\/freshlyprintedbooks.co.uk\/products\/lysosomal-storage-disorders-a-practical-guide-hardback-9781119697282","provider":"Freshly Printed Books","version":"1.0","type":"link"}