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Lysosomal Storage Disorders
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 un...
Lysosomal Storage Disorders
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 ...
Lysosomal Storage Disorders
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.
Lysosomal Storage Diseases
The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urge...
The Neuronal Ceroid Lipofuscinoses (Batten Disease)
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Lysosomal Storage Disorders
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.
Lysosomal Storage Diseases
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.
Placental and Gestational Pathology with Online Resource
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Gaucher Disease
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 proto
Inherited Metabolic Disease in Adults
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.
