Neurology Of Hereditary Metabolic Diseases Of Children Third Edition

Author : Gilles Lyon,Edwin Kolodny,Gregory Pastores
Publisher : McGraw Hill Professional
Page : 500 pages
File Size : 53,6 Mb
Release : 2010-05-16
Category : Medical
ISBN : 9780071491990

Get Book

Neurology of Hereditary Metabolic Diseases of Children: Third Edition by Gilles Lyon,Edwin Kolodny,Gregory Pastores Pdf

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,Raymond Delacy Adams,Edwin H. Kolodny
Publisher : McGraw-Hill Professional Publishing
Page : 414 pages
File Size : 55,5 Mb
Release : 1996
Category : Medical
ISBN : UOM:39015054144178

Get Book

Neurology of Hereditary Metabolic Diseases of Children by Gilles Lyon,Raymond Delacy Adams,Edwin H. Kolodny Pdf

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,Edwin H. Kolodny,Gregory M. Pastores
Publisher : McGraw-Hill Education / Medical
Page : 560 pages
File Size : 53,7 Mb
Release : 2006-04-24
Category : Medical
ISBN : UOM:39015064137766

Get Book

Neurology of Hereditary Metabolic Diseases of Children: Third Edition by Gilles Lyon,Edwin H. Kolodny,Gregory M. Pastores Pdf

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 : A Parthasarathy,PSN Menon,MKC Nair
Publisher : Jaypee Brothers Medical Publishers
Page : 1634 pages
File Size : 48,5 Mb
Release : 2019-02-04
Category : Medical
ISBN : 9789352708017

Get Book

IAP Textbook of Pediatrics by A Parthasarathy,PSN Menon,MKC Nair Pdf

Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 386 pages
File Size : 53,9 Mb
Release : 2009-11-21
Category : Medical
ISBN : 9783540747239

Get Book

Inherited Metabolic Diseases by Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Pdf

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 : Anoop Verma,PAM Kunju
Publisher : Jaypee Brothers Medical Publishers
Page : 606 pages
File Size : 51,9 Mb
Release : 2019-05-31
Category : Medical
ISBN : 9789352709793

Get Book

IAP Textbook of Pediatric Neurology by Anoop Verma,PAM Kunju Pdf

Author : Alexis Arzimanoglou,Anne O' Hare,Michael Johnston,Robert A. Ouvrier
Publisher : Mac Keith Press
Page : 0 pages
File Size : 49,8 Mb
Release : 2018-10-08
Category : Medical
ISBN : 1909962805

Get Book

Aicardi's Diseases of the Nervous System in Childhood by Alexis Arzimanoglou,Anne O' Hare,Michael Johnston,Robert A. Ouvrier Pdf

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 : Philip B. Gorelick,Fernando Testai,Graeme Hankey,Joanna M. Wardlaw
Publisher : CRC Press
Page : 978 pages
File Size : 40,6 Mb
Release : 2014-01-15
Category : Medical
ISBN : 9781840761931

Get Book

Hankey's Clinical Neurology, Second Edition by Philip B. Gorelick,Fernando Testai,Graeme Hankey,Joanna M. Wardlaw Pdf

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.

Author : Stephen Ashwal
Publisher : Academic Press
Page : 1065 pages
File Size : 53,7 Mb
Release : 2021-09-01
Category : Medical
ISBN : 9780323858151

Get Book

Child Neurology by Stephen Ashwal Pdf

Child Neurology: Its Origins, Founders, Evolution and Growth, Second Edition updates the first biographical study of important contributors to the field of child neurology, consisting of over 250 biographical sketches written by over 100 physicians specializing in neurology, child neurology, pediatrics and obstetrics. Organized chronologically into six chapters, beginning before 1800 and continuing to the present, Child Neurology traces the emergence of child neurology as a separate specialty from its roots in pediatrics and neurology. With a definitive historical introduction by the editor, Dr. Stephen Ashwal. This new edition will feature a new section on The Dynamic Growth and Expansion of Child Neurology: The Late Twentieth Century (1960 to 2000+) and features about 138 new biographical sketches of leaders in the field during this recent time frame. Child Neurology: Its Origins, Founders, Evolution and Growth, Second Edition will be published on behalf of the Child Neurology Society, a professional society that strives to foster recognition and support for children with neurological disorders and to promote and exchange national and international scientific research, education, and training in the field of neurology. Identifies top contributors to child neurology research from the 1800s to today Includes 238 biographical sketches of contributors and their scientific research Contains 138 new biographies on contributors from the late 20th and early 21st centuries Authored by physicians and published by the Child Neurology Society

Author : Susan Riddick-Grisham,Laura Deming
Publisher : CRC Press
Page : 1054 pages
File Size : 42,7 Mb
Release : 2011-04-26
Category : Medical
ISBN : 9781439803585

Get Book

Pediatric Life Care Planning and Case Management, Second Edition by Susan Riddick-Grisham,Laura Deming Pdf

Pediatric Life Care Planning and Case Management provides a comprehensive and unique reference that goes beyond the clinical discussion to include legal and financial aspects, life expectancy data, and assistive technology. It also includes case samples of actual plans related to specific conditions. The book is divided into five parts: Normal Growth and Development of Children describes the normal growth and development and the cognitive and psychosocial development of children. The Roles of the Life Care Plan Team details the roles of members of a life care plan team, from the pediatric care manager and life care planner to the vocational rehabilitation consultant, among others. Chronic Conditions and Disability States offers guidelines for life care planning for children with a wide range of chronic health conditions and disabilities, including traumatic injuries and organ transplants. Forensic Considerations examines life care planning in legal cases, life expectancy issues, and life care plan foundation strategies and requirements. Special Issues discusses assistive technology, medical homes, funding sources, and ethical issues in caring for children with special needs—including a mother’s perspective on caring for her son. With contributions from highly respected professionals, this text provides a guide for life care planners, health-care professionals, education specialists, insurance decision makers, attorneys, and families who work with children with special health-care needs.

Author : Bureau Michelle,Genton Pierre,Dravet Charlotte
Publisher : John Libbey Eurotext
Page : 682 pages
File Size : 43,7 Mb
Release : 2012-11-12
Category : Medical
ISBN : 9782742008292

Get Book

Epileptic Syndromes in Infancy, Childhood and Adolescence - 5th edition by Bureau Michelle,Genton Pierre,Dravet Charlotte Pdf

The ultimate reference book : the 5th updated edition of the famous “blue guide”. Incluided : A DVD with new sequences completes each chapter! Epileptology changes. The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics. New entities have found their place, and a purely descriptive, “electroclinical” approach is no longer adapted in many circumstances. The 5th edition of the Blue Guide includes the most recent advances. It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making. Nevertheless, the description of epileptic syndromes, both classical and recent, remains at the core of this book.

Author : Kenneth F. Swaiman,Stephen Ashwal,Donna M. Ferriero
Publisher : Elsevier Health Sciences
Page : 2535 pages
File Size : 40,8 Mb
Release : 2006-01-01
Category : Medical
ISBN : 9780323033657

Get Book

Pediatric Neurology by Kenneth F. Swaiman,Stephen Ashwal,Donna M. Ferriero Pdf

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 : James G. McLeod,James W. Lance,Llewelyn Davies
Publisher : John Wiley & Sons
Page : 353 pages
File Size : 48,9 Mb
Release : 2013-12-06
Category : Medical
ISBN : 9781118893296

Get Book

Introductory Neurology Third Edition by James G. McLeod,James W. Lance,Llewelyn Davies Pdf

Introductory Neurology provides a concise introduction to neurology for undergraduate and postgraduate medical students. This book is designed to relate the basic sciences, particularly physiology and anatomy, to the examination of the nervous system and to neurological diseases. This textbook combines basic neuroscience with clinical neurology and is suitable for preclinical and clinical medical students. The third edition of this book is completely revised and updated.

Author : Phillip L. Pearl, MD
Publisher : Demos Medical Publishing
Page : 377 pages
File Size : 54,7 Mb
Release : 2012-10-04
Category : Medical
ISBN : 9781617050565

Get Book

Inherited Metabolic Epilepsies by Phillip L. Pearl, MD Pdf

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 : Joe T. R. Clarke
Publisher : Cambridge University Press
Page : 360 pages
File Size : 45,9 Mb
Release : 2005-12-08
Category : Medical
ISBN : 9781139447188

Get Book

A Clinical Guide to Inherited Metabolic Diseases by Joe T. R. Clarke Pdf

This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.