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Author: Gilles Lyon
Publisher: McGraw Hill Professional
ISBN: 0071491996
Category : Medical
Languages : en
Pages : 500
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Book Description
The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
Author: Gilles Lyon
Publisher: McGraw Hill Professional
ISBN: 0071491996
Category : Medical
Languages : en
Pages : 500
Get Book
Book Description
The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
Author: Gilles Lyon
Publisher: McGraw-Hill Professional Publishing
ISBN:
Category : Medical
Languages : en
Pages : 414
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Book Description
From the author of Principles of Neurology, this guide is organized by age group, from the neonate to late childhood, and presents systematic, clinical methodology to the diagnosis and management of this difficult and often baffling group of disorders. Raymond Adams explains the distinctions between hereditary metabolic diseases and other diseases of symptomatic treatment, enzyme replacement therapy and guidelines for the prevention of disease.
Author: Gilles Lyon
Publisher: McGraw-Hill Education / Medical
ISBN:
Category : Medical
Languages : en
Pages : 560
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Book Description
Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of this text clarifies the complicated genetics and biochemistry of these illnesses and should prove to be invaluable to the non-specialist and specialist alike. offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy.
Author: Georg F. Hoffmann
Publisher: Springer Science & Business Media
ISBN: 3540747230
Category : Medical
Languages : en
Pages : 386
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Book Description
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Author: A Parthasarathy
Publisher: Jaypee Brothers Medical Publishers
ISBN: 9352708016
Category : Medical
Languages : en
Pages : 1634
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Book Description
Author: Alexis Arzimanoglou
Publisher: Mac Keith Press
ISBN: 9781909962804
Category : Medical
Languages : en
Pages : 0
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Book Description
Congenital or early-onset disorders of the nervous system have a profound and lifelong impact on the lives of children and their families. Diseases of the Nervous System in Childhood provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence. Movement disorders, epilepsies and seizure disorders, metabolic diseases, auditory and visual disorders, and genetic anomalies are among the many topics covered in this text. Extensive reference lists at the end of each chapter guide the clinician to further relevant reading. This fourth edition retains the patient-focussed, clinical approach of its predecessors. The international team of editors and contributors has honoured the request of the late Jean Aicardi, that his book remain ‘resolutely clinical’, which distinguishes Diseases of the Nervous System in Childhood from other texts in the field. This edition: Is completely revised and updated Includes latest developments in genetic advances Contains new chapters on basal ganglia diseases and psychogenic disorders Has an easy-to-use one volume format with full-colour illustrations
Author: Kenneth F. Swaiman
Publisher: Elsevier Health Sciences
ISBN: 0323033652
Category : Medical
Languages : en
Pages : 2535
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Book Description
This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology
Author: Anoop Verma
Publisher: Jaypee Brothers Medical Publishers
ISBN: 9352709799
Category : Medical
Languages : en
Pages : 606
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Book Description
Author: Phillip L. Pearl, MD
Publisher: Demos Medical Publishing
ISBN: 1617050563
Category : Medical
Languages : en
Pages : 377
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Book Description
The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy
Author: Philip B. Gorelick
Publisher: CRC Press
ISBN: 1840761938
Category : Medical
Languages : en
Pages : 978
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Book Description
Since the publication of the highly successful first edition, there has been an explosion of rigorous scientific evidence for interventions in clinical neurology. Hankey's Clinical Neurology, Second Edition is fully updated to accommodate the latest advancements in clinical neuroscience. Designed for students of clinical neurology, neurologists-in-training, and practicing neurologists who need ready access to a comprehensive, evidence-based guide to new and notable neurologic disorders, the Second Edition: Contains a chapter solely dedicated to sleep disorders Introduces a section on neuro-ophthalmology within the cranial neuropathies chapter Reflects a more global approach, as each chapter is written by an international expert in the field Delivers expanded coverage of degenerative diseases of the nervous system, with sections on dementias, Parkinson’s disease and Parkinsonian syndromes, and hereditary ataxias Includes 440+ all-new, high-quality illustrations ranging from anatomical drawings to clinical photographs and pathology specimens, with many images taken with permission from the authors’ own patients The structured text integrates presentation, pathology, radiology, diagnosis, and treatment options to provide a practical, patient-oriented examination of clinical neurology.
