Neurocutaneous Disorders, Christos P Panteliadis

Автор: Martino Ruggieri; Ignacio Pascual Castroviejo; Con
Название: Neurocutaneous Disorders
ISBN: 3709119073 ISBN-13(EAN): 9783709119075
Издательство: Springer
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Цена: 269260.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Some of the more common entities have variable forms of expression that can confuse the diagnosis; for the rare conditions it is difficult to find descriptions in the literature. Recent insights into their cellular, biochemical and molecular genetic bases have shown the essential need for a new nosology and updated genotype-phenotype correlations. The book provides an authoritative source of knowledge about these difficult problems and bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.

Автор: Panteliadis
Название: Neurocutaneous Disorders
ISBN: 3030878953 ISBN-13(EAN): 9783030878955
Издательство: Springer
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Цена: 144410.00 T
Наличие на складе: Поставка под заказ.
Описание: This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise. Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease.

Автор: Ruggieri
Название: Neurocutaneous Disorders
ISBN: 3211213961 ISBN-13(EAN): 9783211213964
Издательство: Springer
Рейтинг:
Цена: 436970.00 T
Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: Neurocutaneous diseases are a wide group of conditions that affect the nervous system but appear as lesions of the skin. Aiming to bridge the gap between clinical recognition and the molecular medicine, this book acts as a guide to the recognition, investigation and management of more than 60 recognised phakomatoses.