The Neuronal Ceroid Lipofuscinoses (Batten Disease) PDF Download
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Author: Sara Mole
Publisher: OUP Oxford
ISBN: 019101558X
Category : Medical
Languages : en
Pages : 772
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Book Description
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.
Author: Sara Mole
Publisher: OUP Oxford
ISBN: 019101558X
Category : Medical
Languages : en
Pages : 772
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Book Description
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.
Author: Atul B. Mehta
Publisher: John Wiley & Sons
ISBN: 1118514696
Category : Medical
Languages : en
Pages : 1
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Book Description
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: Raymond W. Redline
Publisher: Cambridge University Press
ISBN: 1316632539
Category : Medical
Languages : en
Pages : 367
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Book Description
A guide to identifying disease processes in the placenta affecting pregnancy outcome, with current diagnostic criteria and clinical consequences.
Author: Anthony R. White
Publisher: Academic Press
ISBN: 0128045639
Category : Medical
Languages : en
Pages : 468
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Book Description
Biometals in Neurodegenerative Diseases: Mechanisms and Therapeutics is an authoritative and timely resource bringing together the major findings in the field for ease of access to those working in the field or with an interest in metals and their role in brain function, disease, and as therapeutic targets. Chapters cover metals in Alzheimer's Disease, Parkinson's Disease, Motor Neuron Disease, Autism and lysosomal storage disorders. This book is written for academic researchers, clinicians and advanced graduate students studying or treating patients in neurodegeneration, neurochemistry, neurology and neurotoxicology. The scientific literature in this field is advancing rapidly, with approximately 300 publications per year adding to our knowledge of how biometals contribute to neurodegenerative diseases. Despite this rapid increase in our understanding of biometals in brain disease, the fields of biomedicine and neuroscience have often overlooked this information. The need to bring the research on biometals in neurodegeneration to the forefront of biomedical research is essential in order to understand neurodegenerative disease processes and develop effective therapeutics. - Authoritative and timely resource bringing together the major findings in the field for those with an interest in metals and their role in the brain function, disease, and as therapeutic targets - Written for academic researchers, clinicians, and advanced graduate students studying, or treating, patients in neurodegeneration, neurochemistry, neurology and neurotoxicology - Edited by international leaders in the field who have contributed greatly to the study of metals in neurodegenerative diseases
Author: Gregory M. Pastores
Publisher: World Scientific
ISBN: 9814271322
Category : Medical
Languages : en
Pages : 179
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Book Description
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: Steven U. Walkley
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 496
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Book Description
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: L. Maximilian Buja
Publisher: Academic Press
ISBN: 0128004592
Category : Science
Languages : en
Pages : 833
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Book Description
Cardiovascular Pathology, Fourth Edition, provides users with a comprehensive overview that encompasses its examination, cardiac structure, both normal and physiologically altered, and a multitude of abnormalities. This updated edition offers current views on interventions, both medical and surgical, and the pathology related to them. Congenital heart disease and its pathobiology are covered in some depth, as are vasculitis and neoplasias. Each section has been revised to reflect new discoveries in clinical and molecular pathology, with new chapters updated and written with a practical approach, especially with regards to the discussion of pathophysiology. New chapters reflect recent technological advances with cardiac devices, transplants, genetics, and immunology. Each chapter is highly illustrated and covers contemporary aspects of the disease processes, including a section on the role of molecular diagnostics and cytogenetics as specifically related to cardiovascular pathology. Customers buy the Print + Electronic product together! Serves as a contemporary, all-inclusive guide to cardiovascular pathology for clinicians and researchers, as well as clinical residents and fellows of pathology, cardiology, cardiac surgery, and internal medicine Offers new organization of each chapter to enable uniformity for learning and reference: Definition, Epidemiology, Clinical Presentation, Pathogenesis/Genetics, Light and Electron Microscopy/Immunohistochemistry, Differential Diagnosis, Treatment and Potential Complications Features six new chapters and expanded coverage of the normal heart and blood vessels, cardiovascular devices, congenital heart disease, tropical and infectious cardiac disease, and forensic pathology of the cardiovascular system Contains 400+ full color illustrations and an online image collection facilitate research, study, and lecture slide creation
Author: Anthony H. Futerman
Publisher: CRC Press
ISBN: 1420005502
Category : Medical
Languages : en
Pages : 553
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Book Description
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
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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Book Description
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:
Publisher:
ISBN:
Category : Lysosomal storage diseases
Languages : en
Pages : 20
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Book Description
