SPRI | Neurocutaneous Disorders: A Clinical, Diagnostic And Therapeutic Approach, 3rd Edition (2022 EN)

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    Author: Christos P. Panteliadis (Editor), Ramsis Benjamin (Editor), Christian Hagel (Editor)
    Full Title: Neurocutaneous Disorders: A Clinical, Diagnostic And Therapeutic Approach, 3rd Edition
    Publisher: ‎ Springer; 3rd ed. 2022 edition (February 4, 2022)
    Year: 2022
    ISBN-13: 9783030878931 (978-3-030-87893-1), 9783030878924 (978-3-030-87892-4), 9783030878955 (978-3-030-87895-5)
    ISBN-10: 3030878937, 3030878929, 3030878953
    Pages: 550
    Language: English
    Genre: Medicine: Neurology
    File type: PDF (True)
    Quality: 10/10
    Price: 213.99 €


    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.


    Overview:
    ✓ Provides extensive data on congenital and hereditary syndromes that manifest in the nervous system and skin
    ✓ Includes historical perspectives, clinical features, diagnosis and therapeutic strategies
    ✓ Also addresses the biochemical, molecular, and genetic basis of the disorders

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