Fr. 134.00

Leukodystrophies

English · Hardback

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Informationen zum Autor Gerald Raymond is a pediatric neurologist and research scientist at Kennedy Krieger Institute, Associate Professor of Neurology at Johns Hopkins University and on the medical staff in the Department of Pediatrics and Neurology at Johns Hopkins Hospital. He has been involved in the study of adrenoleukodystrophy and other peroxisomal disorders for over 15 years. Klappentext The leukodystrophies are serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, and ambulation, and early death. A comprehensive guide to the genetics and pathogenesis of these disorders, as well as their clinical features, diagnosis and therapy, is needed, particularly as their early identification can allow more effective treatment.This book is the only up-to-date, comprehensive text on leukodystrophies. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults. After a comprehensive overview of myelin and the role of oligodendrocytes, astrocytes and microglia in white matter disease, chapters are then devoted to individual disorders, covering their biochemical and molecular basis, genetics, pathophysiology, clinical features, diagnosis, treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults.The book was conceived by Hugo Moser, whose research led to major developments in the treatment of adrenoleukodystrophy, and is dedicated to him by his colleagues.Readership: Paediatric and adult neurologists, paediatricians, geneticists. Zusammenfassung The leukodystrophies are serious! progressive disorders of demyelination! manifesting themselves in infancy or early childhood and progressing rapidly! leading to loss of sight! hearing! speech! and ambulation! and early death. A comprehensive guide to the genetics and pathogenesis of these disorders! as well as their clinical features! diagnosis and therapy! is needed! particularly as their early identification can allow more effective treatment.This book is the only up-to-date! comprehensive text on leukodystrophies. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults. After a comprehensive overview of myelin and the role of oligodendrocytes! astrocytes and microglia in white matter disease! chapters are then devoted to individual disorders! covering their biochemical and molecular basis! genetics! pathophysiology! clinical features! diagnosis! treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults.The book was conceived by Hugo Moser! whose research led to major developments in the treatment of adrenoleukodystrophy! and is dedicated to him by his colleagues.Readership: Paediatric and adult neurologists! paediatricians! geneticists. Inhaltsverzeichnis Foreword by Ann Moser (Baltimore, MD, USA)1. Leukodystrophy and myelin Hugo Moser and Gerald Raymond (Baltimore, MD, USA)2. Myelination in health and disease Graham Kidd and Bruce D. Trapp (Cleveland, OH, USA)3. The role of astrocytes in white-matter disease Jörg Dietrich (Boston, MA, USA) and Chris Pröschel (Rochester, NY, USA)4. Microglia and leukodystrophies Patricia Musolino and Florian Eichler (Boston, MA, USA)5. X-linked adrenoleukodystrophy Gerald V. Raymond (Baltimore, MD, USA)6. Krabbe disease (globoid cell leukodystrophy) David A. Wenger (Philadelphia, PA, USA)7. Alexander disease Daniel Flint and Michael Brenner (Birmingham, AL, USA)8. Metachromatic leukodystrophy Volkmar Gieselman (Bonn, Germany) and Ingeborg Krägeloh-Mann (Tübingen, Germany)9. Canavan disease Kimberlee Micha...

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