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Author: Deborah Elstein
Publisher: Springer Science & Business Media
ISBN: 9048190339
Category : Medical
Languages : en
Pages : 525
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Book Description
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Author: Deborah Elstein
Publisher: Springer Science & Business Media
ISBN: 9048190339
Category : Medical
Languages : en
Pages : 525
Get Book Here
Book Description
Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.
Author: Dawn Laney
Publisher:
ISBN: 9781439245842
Category : Chronically ill children
Languages : en
Pages : 0
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Book Description
Joe's story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old.
Author: Neil N. Turner
Publisher: Oxford University Press
ISBN: 0191017655
Category : Medical
Languages : en
Pages : 3045
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Book Description
This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.
Author: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
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Book Description
A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: Low, Greg
Publisher: Lww
ISBN: 9781469877440
Category : Autonomic nervous system
Languages : en
Pages : 808
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Book Description
Thoroughly updated for its Third Edition, this text will be the definitive reference on autonomic nervous system disorders, for practicing and academic neurologists and clinicians in such areas as cardiology and gastroenterology where autonomic disorders are prevalent. The book focuses on patient care and provides the sophisticated laboratory testing information necessary for clinical diagnosis and management.This edition has a new co-editor, Eduardo E. Benarroch, MD, who provides more detailed information on the role of the central nervous system in autonomic disorders. The book incorporates the latest advances in noninvasive laboratory testing to evaluate abnormalities in the control of blood pressure, heart rate, urination, digestion, sexual function, and sweating.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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Book Description
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author: Christos P. Panteliadis
Publisher: "Elsevier,Urban&FischerVerlag"
ISBN: 3437171178
Category : Medical
Languages : en
Pages : 315
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Book Description
Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Author: H. Yokozeki
Publisher: Karger Medical and Scientific Publishers
ISBN: 3318059056
Category : Medical
Languages : en
Pages : 133
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Book Description
Research into perspiration has developed dramatically during the last 15 years, continually improving our understanding of the pathogenesis of sweating disorders. It has become clear that, in addition to its temperature-regulating function, perspiration offers bactericidal protection as well. In this book, select authors further broaden our perspective on perspiration. Contributions cover a variety of new aspects, offering insight into the sweat glands' major role during the onset of disorders such as parapsoriasis, lichen planus, and lichen amyloidosis. They also highlight the importance of Malassezia - an allergen in sweat that exacerbates atopic dermatitis and cholinergic urticarial. Further roles of the sweat glands are discussed, including as storage of stem cells for replenishing epidermal cells in the case of thermal burns or as water retention sites for replenishing moisture in the stratum corneum. In addition, a novel analysis of the sweat glands' three-dimensional structures, using high-speed en-face optical coherence tomography (OCT), is introduced. Offering an in-depth overview of the latest knowledge in perspiration research, this book serves as an essential reference for all medical staff and researchers in the field.
Author: Sewon Kang
Publisher:
ISBN: 9780071837811
Category :
Languages : en
Pages : 2272
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Book Description
Author: Julien Bogousslavsky
Publisher: Cambridge University Press
ISBN: 9780521771450
Category : Medical
Languages : en
Pages : 418
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Book Description
An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.
