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Author :
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (111 download)
Download or read book Enzyme-Replacement Therapies for Lysosomal Storage Diseases written by and published by . This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Atul B. Mehta
Publisher : John Wiley & Sons
ISBN 13 : 1118514696
Total Pages : 1 pages
Book Rating : 4.1/5 (185 download)
Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2012-09-06 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
Author : Deborah Elstein
Publisher : Springer Science & Business Media
ISBN 13 : 9048190339
Total Pages : 525 pages
Book Rating : 4.0/5 (481 download)
Download or read book Fabry Disease written by Deborah Elstein and published by Springer Science & Business Media. This book was released on 2010-08-02 with total page 525 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Author :
Publisher :
ISBN 13 :
Total Pages : 20 pages
Book Rating : 4.:/5 (319 download)
Download or read book The Mucopolysaccharidoses written by and published by . This book was released on 2003 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Gregory M. Pastores
Publisher : World Scientific
ISBN 13 : 9814271322
Total Pages : 179 pages
Book Rating : 4.8/5 (142 download)
Download or read book Lysosomal Storage Disorders written by Gregory M. Pastores and published by World Scientific. This book was released on 2010 with total page 179 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject. A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician. Sample Chapter(s). Foreword (34 KB). Chapter 1: Introduction (1,266 KB). Contents: Clinical Perspectives; Diagnostic Confirmation and Screening Protocols; Assessment of Disease Burden and Assignment of Disease Severity; Pathophysiology and Biomarkers; Current and Emerging Therapies; Future Prospects. Readership: Graduate medical students, nurses, genetic counselors and physicians.
Author : Raymond W. Redline
Publisher : Cambridge University Press
ISBN 13 : 1316632539
Total Pages : 367 pages
Book Rating : 4.3/5 (166 download)
Download or read book Placental and Gestational Pathology with Online Resource written by Raymond W. Redline and published by Cambridge University Press. This book was released on 2018-08-23 with total page 367 pages. Available in PDF, EPUB and Kindle. Book excerpt: A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Author : Frederick J. Suchy
Publisher : Cambridge University Press
ISBN 13 : 1108911374
Total Pages : 875 pages
Book Rating : 4.1/5 (89 download)
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author : Mohammed M. Sayeed
Publisher : CRC Press
ISBN 13 : 9780849340611
Total Pages : 186 pages
Book Rating : 4.3/5 (46 download)
Download or read book Cellular Pathophysiology written by Mohammed M. Sayeed and published by CRC Press. This book was released on 1989-05-31 with total page 186 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years, there has been increased research on cellular pathophysiology in animal and tissue models simulating human disease processes. The result of this research, which has been carried out primarily by physiologists, pharmacologists, biochemists, anatomists, pathologists, and clinicians, is now presented in this forum. A better understanding of how cellular, subcellular and molecular mechanisms initiate and progressively intensify organic/systemic disease processes is important in the development of rational therapies against these disease processes.
Author : Anthony H. Futerman
Publisher : CRC Press
ISBN 13 : 1420005502
Total Pages : 544 pages
Book Rating : 4.4/5 (2 download)
Download or read book Gaucher Disease written by Anthony H. Futerman and published by CRC Press. This book was released on 2006-07-07 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of others. Like many rare conditions, Gaucher disease has benefited from the explosion of medical research in the last decade, the amount of new information on this disease is staggering and the rate of new discoveries has left previous books on the subject unable to provide useful, up-to-date information. The most current, fully comprehensive reference to date, Gaucher Disease provides valuable information for academic and industry scientists, and clinicians. Outlining the latest research on the biochemical mechanisms and pathology of lysosomal storage disorders, this book covers diverse topics including animal models, crystallography, imaging and radionuclide evaluation. It not only addresses the developmental basis for current treatments like the now widely available enzyme replacement therapy, but also includes chapters introducing new therapies on the horizon. With contributions from world-renowned experts in substrate reduction therapy, pharmaceutical chaperone therapy, hematopoietic stem cell transplantation and gene therapy, as well as chapters on a second generation of enzyme replacement therapy, this book explores the full spectrum of possibilities offered by the most recent advances in medicine. Some of the most interesting aspects of the book include the discussions on patient management, those touching on the ethics of research, and the societal aspects of treating rare diseases with expensive therapy.
Author : Gregory M. Pastores
Publisher : Nova Science Publishers
ISBN 13 : 9781634846615
Total Pages : 0 pages
Book Rating : 4.8/5 (466 download)
Download or read book Lysosomal Storage Diseases written by Gregory M. Pastores and published by Nova Science Publishers. This book was released on 2016 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This monograph presents an overview of the lysosome and its different roles in the maintenance of cellular homeostasis. It also provides a description of the various pathophysiologic changes associated with the lysosomal storage disorders. Therapeutic considerations and aspects relating to genetic counselling are covered in the final section. Several diagrams are provided to facilitate greater understanding of relevant themes. Additionally, contextual material is given at the end of each chapter, which elaborates on some of the entries brought up in the discussions. The book is written by an expert in the field who has been engaged in basic and clinical research. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive examination of the relevant topics. Issues covered should appeal to both the basic scientist and the clinician.
Author : John A. Barranger
Publisher : Springer Science & Business Media
ISBN 13 : 0387709096
Total Pages : 564 pages
Book Rating : 4.3/5 (877 download)
Download or read book Lysosomal Storage Disorders written by John A. Barranger and published by Springer Science & Business Media. This book was released on 2007-10-16 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt: The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.
Author : Steven U. Walkley
Publisher :
ISBN 13 :
Total Pages : 496 pages
Book Rating : 4.3/5 (91 download)
Download or read book Lysosomal Disorders of the Brain written by Steven U. Walkley and published by . This book was released on 2004 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.
Author : Atul B. Mehta
Publisher : John Wiley & Sons
ISBN 13 : 111969728X
Total Pages : 340 pages
Book Rating : 4.1/5 (196 download)
Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2022-07-12 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal Storage Disorders Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders In 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: The general aspects of LSDs, with special attention paid to physiology and pathology Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism The existing and emerging treatments for LSDs Key patient issues such as availability and disease awareness, including in the Third World. For 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.
Author : Carmen Salavastru
Publisher : Springer Nature
ISBN 13 : 3030547795
Total Pages : 494 pages
Book Rating : 4.0/5 (35 download)
Download or read book Skin and the Heart written by Carmen Salavastru and published by Springer Nature. This book was released on 2021-03-10 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book describes the relationship of the skin with cardiovascular disease. It details the variety of genetic, autoimmune, metabolic and endocrine factors that link the two disciplines. Recognition of one sign or symptom in dermatology can lead to the investigation and discovery of an important related cardiac condition, the recognition of which is important to prevent cardiovascular complications. Similarly, a cardiac condition may be related to an underlying skin condition that requires treatment. Genetic examples of such instances included within the book include: pseudoxanthoma elasticum, epidermolysis bullosa with desmosome defects and plectin defects; Marfan syndrome; Autoimmune conditions include vasculitis, sarcoidosis, lupus; metabolic conditions include insulin resistance, eruptive xanthomas with hypertriglyceridemias and elevated cholesterol; endocrine disorders include thyroid acropachy with atrial fibrillation; insulin resistance with coronary artery disease and psoriasis or hidradenitis suppurativa. Skin and the Heart reviews the effects of genetic, autoimmune and endocrine diseases with connections between skin and heart. It is therefore a key reference for all practitioners and researchers working in both disciplines.
Author :
Publisher :
ISBN 13 : 981446824X
Total Pages : pages
Book Rating : 4.8/5 (144 download)
Download or read book Lysosomal Storage Disorders written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Margit Pavelka
Publisher : Springer Science & Business Media
ISBN 13 : 3211993908
Total Pages : 366 pages
Book Rating : 4.2/5 (119 download)
Download or read book Functional Ultrastructure written by Margit Pavelka and published by Springer Science & Business Media. This book was released on 2010-07-16 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: The period between 1950 and 1980 were the golden unique insights into how pathological processes affect years of transmission electron microscopy and produced cell organization. a plethora of new information on the structure of cells This information is vital to current work in which that was coupled to and followed by biochemical and the emphasis is on integrating approaches from functional studies. TEM was king and each micrograph proteomics, molecular biology, genetics, genomics, of a new object produced new information that led to molecular imaging and physiology and pathology to novel insights on cell and tissue organization and their understand cell functions and derangements in disease. functions. The quality of data represented by the images In this current era, there is a growing tendency to of cell and tissues had been perfected to a very high level substitut e modern light microscopic techniques for by the great microscopists of that era including Palade, electron microscopy, because it is less technically Porter, Fawcett, Sjostrand, Rhodin and many others. At demanding and is more readily available to researchers- present, the images that we see in leading journals for This atlas reminds us that the information obtained by the most part do not reach the same technical level and electron microscopy is invaluable and has no substitute.
