{"product_id":"lysosomal-storage-disorders-isbn-9781119697282","title":"Lysosomal Storage Disorders","description":"\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 \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 \u003cp\u003e\u003cb\u003e\u003ci\u003eThe Editors\u003c\/i\u003e\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003e Atul B. Mehta\u003c\/b\u003e is Emeritus Professor at University College London. He trained in Medicine at Cambridge University and King’s College London; completed his doctorate at Imperial College London and works as a haematologist and physician in London. He was the Founder and Director of the Lysosomal Storage Disorders Centre at the Royal Free, which grew to be the largest centre in the UK and is one of the foremost clinical academic centres for LSDs in the world. His goal has always been to provide patient-centred care as part of a coordinated team of professionals. He now works in private practice, charitable, educational and research roles, including consultancy. \u003c\/p\u003e\u003cp\u003e\u003cb\u003e Bryan Winchester\u003c\/b\u003e is Emeritus Professor of Biochemistry at the UCL Great Ormond Street Institute of Child Health, University College London. After studying Chemistry at Cambridge University, he obtained a Ph.D. in Biochemistry at University College London. He taught Biochemistry and carried out research on lysosomal storage diseases at London University for over 40 years. From 1988–2006, he worked closely with the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital and was chairman of the European Study Group on Lysosomal Diseases from 1997–2007. On retirement he became a Trustee of the British MPS Society.  \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\n\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\n\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","brand":"Wiley-Blackwell","offers":[{"title":"Default Title","offer_id":47989546615013,"sku":"NP9781119697282","price":145.0,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9781119697282.jpg?v=1761784545","url":"https:\/\/k12savings.com\/es\/products\/lysosomal-storage-disorders-isbn-9781119697282","provider":"K12savings","version":"1.0","type":"link"}