Movement disorder specialists, general neurologists, hepatologists, general gastroenterologists, and psychiatrists are the specialists who will most likely see some Wilson's disease patients during their careers. See them - yes. Recognize and diagnose them - maybe. If you are in one of these specialties, and a patient with tremor, hepatitis, cirrhosis, apparent Parkinsonism, or mood disorder, is referred to you, will you appropriately recognize the possibility that the underlying diagnosis may be Wilson's disease? Wilson's disease is both treatable and reversible, and commonly misdiagnosed. This book aims to change this with comprehensive coverage of every aspect of Wilson's disease, from well-catalogued, easy-to-use clinical diagnostic tools to treatment methods to molecular biology. Dr. Brewer is the world's leading expert on Wilson's disease, seeing and caring for over 300 patients with the disease during the last 20 years. He is a professor of human genetics at the University of Michigan.

Wilsons Disease for the Patient and Family: A Patients Guide to Wilsons disease and Frequently asked Questions about Copper, is an essential reference book for patients with Wilsons disease and their families. In easy-to-understand language, Dr. Brewer, a world authority on Wilsons disease and copper, explains everything about Wilsons disease, from its genetic cause and mechanism of transmission, to effective treatment plans. A comprehensive glossary provides readers with definitions and explanations for many of the scientific words and phrases used in the text. Major reasons why this book is important to patients relate to the rarity of the disease, variation in its manner of presentation, and the likelihood that doctors consulted about the medical problems will know very little about Wilsons disease. Most doctors, even specialists in liver disease or neurology, will see at most one or two cases during their entire medical careers. If patients hope for rapid and early diagnosis, and that is important to preserve as much function as possible, they may need to help the doctor think of the disease in the first place, and help in sorting out what constitutes proper diagnosis. And then, if there is a diagnosis, comes treatment. The days are gone when one drug, penicillamine (the only anticopper drug most doctors have heard of), is prescribed as soon as the diagnosis is made. Now we have different therapies for different stages. In fact, we no longer recommend penicillamine for Wilsons disease at all. This book will guide the patient and family through all of these various aspects of Wilsons disease. Dr. Brewer begins by describing Wilsons disease, what causes it, how it is inherited, and what symptoms people with Wilsons disease exhibit. It is an inherited disorder of copper accumulation and toxicity, affecting one in 40,000 people worldwide. After basic coverage of Wilsons disease, Dr. Brewer devotes an entire chapter to answering some of the most commonly asked questions about copper. Many of these questions are unrelated to Wilsons disease, but are questions frequently asked by other types of patients as they are informed that there is something wrong with their copper. After that, Dr. Brewer explores the symptoms which should trigger the suspicion of Wilsons disease, and what screening tests can be done to explore this possibility. He then covers testing which will give a definitive diagnosis, what the results of different tests mean, and some of the possible problems with various tests which might be performed. Once a reliable diagnosis of Wilsons disease is made, anticopper therapy is essential to the survival of Wilsons disease patients. Dr. Brewer explains what drugs are available for treatment of Wilsons disease, and offers a comparison of their benefits and side effects. He elaborates on variations in treatment, first discussing the initial stage of treatment, and then long-term maintenance therapy. Included in the discussion are tips for treatment of children and pregnant women. The risks and long-term outlook for a person diagnosed with Wilsons disease are discussed in some detail. After these information-packed chapters, Dr. Brewer devotes a chapter to answering some frequently asked questions about Wilsons disease, and presents resources available to Wilsons disease patients and their families. The book concludes as Dr. Brewer examines the current shortcomings in Wilsons disease therapy, and points to areas which might be improved upon in the future.

Wilson Disease: Pathogenesis, Molecular Mechanisms, Diagnosis, Treatment and Monitoring translates both clinical and experimental findings into a comprehensive approach for anyone involved in research and patient care. While the clinical variability of Wilson Disease poses a challenge from a diagnostic approach, the book uses the translational impact of new research findings to relate to new treatment concepts. Comprehensive chapters include common knowledge, guideline consensus statements, and discussions of clinical evidence. This is a must-have reference for researchers and clinicians in translational research.

Written by an international group of renowned experts, the Fifth Edition of this premier reference provides comprehensive, current information on the genetics, pathophysiology, diagnosis, medical and surgical treatment, and behavioral and psychologic concomitants of all common and uncommon movement disorders. Coverage includes Parkinson's disease, other neurodegenerative diseases, tremors, dystonia, Tourette's syndrome, Huntington's disease, and ataxias. This edition features extensive updates on genetics, imaging, and therapeutics of Parkinson's disease, other parkinsonian disorders, and all hyperkinetic movement disorders. A bound-in CD-ROM, Video Atlas of Movement Disorders, demonstrates the movement and posture abnormalities and other disturbances associated with Parkinson's disease and other neurologic disorders.

Bibliography of 8491 references derived from over 4500 current serial titles and over 100 current bibliographic services, books, monographs, and retrospective bibliographies. Arrangement: v. 1, Citations; v. 2, Author index; v. 3, Subject index. Complete entries appear in Citations and are arranged in approximate chronological order. Journal titles might be shortened, but they are not abbreviated in entries. Subject descriptors and identification of kind of study (e.g., clinical, paramedical, popular) are also included in the entries.

Now with new coverage of pediatric topics and fully revised chapters, most by new contributors, this new edition provides the latest knowledge and techniques. Includes a new, more user-friendly page layout with algorithms, shaded boxes, and "Most Common" lists.

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible, a "translational" approach is used, linking the behavioral and cognitive manifestations of these conditions, to the underlying structural, chemical or genetic abnormalities and their effect on the brain, and, in turn, on behavior and cognition. At the same time, included are significant psychosocial factors. Together, those factors have a major effect on patients' performance, including school performance, and on their families. This book is unique in its extensive coverage of the major pediatric conditions and of the detailed neurological, neuropsychological and behavioral aspects of each condition.

Clinical Hepatology – Principles and Practice of Hepatobiliary Diseases provides clear and comprehensive coverage of the etiology, mechanisms of disease, diagnosis, and practical management of the entire spectrum of liver and biliary disorders. It also affords an excellent, evidence-based review of the rapidly expanding field of hepatobiliary diseases.