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A Clinical Guide to Inherited Metabolic Diseases
A clinically organized, user-friendly, handbook on inherited metabolic diseases and their diagnosis.
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases
This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Inherited Metabolic Diseases
This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which init...
NORD Guide to Rare Disorders
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Human DNA
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Operations Research and Health Care Policy
Operations research tools are ideally suited to providing solutions and insights for the many problems health policy-maker's face. Indeed, a growing body of literature on health policy analysis, based on operations research methods, has emerged to address the problems mentioned above and several others. The research in this field is often multi-disciplinary, being conducted by teams that include not only operations researchers but also clinicians, economists and policy analysts. The research is also often very applied, focusing on a specific question driven by a decision-maker and many times yielding a tool to assist in future decisions. The goal of this volume was to bring together a group ...
Fabry Disease
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 Fabr...
CASE STUDIES IN CANADIAN HEALTH POLICY AND MANAGEMENT, SECOND EDITION
Covering a wide range of issues, the 22 cases included in Case Studies in Canadian Health Policy and Management constitute an exceptional resource for bringing real-life policy questions into the classroom. Based on actual events, the cases have been developed with input from mid-career professionals with strong field experience and extensively tested in Raisa B. Debers graduate case study seminar at the University of Toronto. Each case features both a substantive health policy issue and a selection of key concepts and methods appropriate to examining public policy, public health, and health care management issues. In each case, the authors provide a summary of the case and the related policy issues, a description of events, suggested questions for discussion, supporting information, and both works cited and further reading. Suitable for graduate and undergraduate classrooms in programs in a variety of fields, Case Studies in Canadian Health Policy and Management is an exceptional educational resource. This second edition features all new cases, as well as adding an introductory chapter that provides a framework and tools for health policy analysis in Canada.
Neurocutaneous Disorders
'The reader is most definitely in for a treat provides the essential clinical and genetic data which points the way to the future.'From the foreword by Roger N. RosenbergThe neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders. It will be essential reading for neurologists as well as dermatologists, geneticists and pediatricians.
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 ...
