Wilson Disease

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· Handbook of Clinical Neurology 第 142 本图书 · Elsevier
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Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives. This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment. - Addresses the molecular pathophysiology of WD and the clinical and pathological effects of copper - Offers coverage of both diagnosis and medical and surgical approaches to treatment - Includes perspectives on both adult and pediatric diagnosis and treatment - Edited work with chapters authored by leaders in the field from around the globe—the broadest, most expert coverage available

作者简介

Anna Członkowska MD Prof earned her Diploma of Medicine at Warsaw Medical Academy before she completed her Doctor of Medicine at the Institute of Psychiatry and Neurology, Warsaw. She received additional training at the Boards of Clinical Neurology at the Institute of Psychiatry and Neurology in Warsaw and Habilitation in Neurology at the Warsaw Medical Academy. She has also received several prestigious fellowships, ranging from a British Council Grant for Neuroimmunology to a Neurobiology Fellowship funded by a Max Planck Society Grant. Between 1985-2013, she served as Professor and Head of the Second Department of Neurology at the Institute of Psychiatry and Neurology in Warsaw. She currently is the professor in this department and Head of the Study Group at the Department of Experimental and Clinical Pharmacology, Medical University of Warsaw. Additionally, Członkowska served as a member of the International Consortium at EUROWILSON. Since 1969, Członkowska has not only cared for a large cohort of 850 patients with Wilsons Disease, created a research database to document their clinical features and evaluate the clinical course of WD (with a focus on the efficacy of current therapies), but has also completed basic research on the pathogenesis of WD. She collaborates with WD centers across Europe.). Her contributions to clinical science extend well beyond Wilson’s Disease and she has been active in research and clinical trials in stroke, multiple sclerosis and neurorehabilitation. Finally, Czlonkowska has supported the career development of many young clinicians and clinical academics whose success owes much to her leadership and support.

Michael Schilsky, MD, became medical director of liver transplantation at Yale-New Haven Hospital in 2007, with appointments in medicine and surgery at the Yale School of Medicine. Dr. Schilsky received his medical degree from the University of Chicago, Pritzker School of Medicine. He completed his residency and fellowship in gastroenterology and research training in liver diseases at Albert Einstein College of Medicine and Montefiore Medical Center. His clinical and research interests include transplant hepatology, inherited metabolic disorders of the liver, Wilson disease and hemochromatosis. Dr. Schilsky previously served as director of the liver medicine clinic at the Recanati/Miller Transplantation Institute at Mount Sinai Medical Center and medical director for liver transplantation at the New York Weill Cornell Medical Center, where he developed a comprehensive program for the care and evaluation of liver transplant patients. Dr. Schilsky coauthored the AASLD practice guidelines for Wilson disease and is author of numerous original manuscripts and reviews.

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