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Ocular Manifestations Of Inborn Errors Of Carbohydrate And Lipid Metabolism
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Book Synopsis The Eye in Pediatric Systemic Disease by : Alex V. Levin
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Book Synopsis Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism by : Jules François
Download or read book Ocular Manifestations of Inborn Errors of Carbohydrate and Lipid Metabolism written by Jules François and published by S Karger Ag. This book was released on 1975 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Eye Movement Disorders by : E.A.C.M. Sanders
Download or read book Eye Movement Disorders written by E.A.C.M. Sanders and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: There is perhaps no area of neuro-ophthalmology that is advancing more rapidly with respect to an understanding of its anatomy and physiology than the ocular motor system. For this reason, it is difficult not only to keep up with the latest information concerning the basic mechanisms involved in the control of eye movements but also to remain up to date regarding the pathophysiology of specific disorders of eye movement. The material in this book is derived from a two-day course on eye movements held in The Netherlands in 1986. The course was designed as an introduction to the normal ocular motor system and to disorders of eye movements and was aimed toward orthoptists, ophthalmolo gists, optometrists, neurologists, and neurosurgeons. The chapters in this book were compiled by a trio of experts in the field of eye movements and contain discussions of anatomy and physiology of the ocular motor system, techniques of examination of patients with diplopia, and pathophysiology of specific disorders of ocular motility. Many of the authors of these chapters are among the most active investigators of eye movements in the world today, and their comments thus reflect the latest information in the field. This text is both basic and com prehensive and thus has something for everyone, from the student just beginning a study of the ocular motor system to the seasoned 'veteran' who wishes to know the latest information regarding central ocular motor control mechanisms. Neil R.
Book Synopsis Liver Disease in Children by : Frederick J. Suchy
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Book Synopsis Lysosomal Storage Disorders by : Atul B. Mehta
Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2012-09-06 with total page 1 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Oxford Textbook of Cognitive Neurology and Dementia by : Masud Husain
Download or read book Oxford Textbook of Cognitive Neurology and Dementia written by Masud Husain and published by Oxford University Press. This book was released on 2018-10-29 with total page 513 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the dramatic developments that have occurred in basic neuroscience and clinical research in cognitive neurology and dementia. It is based on the clinical approach to the patient, and provides essential knowledge that is fundamental to clinical practice.
Book Synopsis The Hospital for Sick Children's Atlas of Pediatric Ophthalmology and Strabismus by : Alex V. Levin
Download or read book The Hospital for Sick Children's Atlas of Pediatric Ophthalmology and Strabismus written by Alex V. Levin and published by Lippincott Williams & Wilkins. This book was released on 2007 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brimming with more than 600 full-color images, this brand-new picture atlas is compiled by experts at the world-renowned Hospital for Sick Children in Toronto, Canada. Each highly detailed photograph is accompanied by concise, yet comprehensive descriptions of such pediatric ocular disorders as: strabismus, cataract, lacrimal sac mucocele, ptosis, congenital glaucoma, retinoblastoma, rhabdomyosarcoma, uveitis, optic nerve disorders, conjunctivitis, congenital malformations, and blepharitis. Designed for your busy practice, this complete reference also gives you extensive advice on ocular manifestations of pediatric systemic disease, radiologic and diagnostic imaging, and more.
Book Synopsis Inborn Metabolic Diseases by : K. Tada
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Book Synopsis Pathology of Heart Disease in the Fetus, Infant and Child by : Michael T. Ashworth
Download or read book Pathology of Heart Disease in the Fetus, Infant and Child written by Michael T. Ashworth and published by Cambridge University Press. This book was released on 2019-08-22 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
Book Synopsis A Clinical Guide to Inherited Metabolic Diseases by : Joe T. R. Clarke
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis National Library of Medicine Current Catalog by : National Library of Medicine (U.S.)
Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1971 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Download or read book Neonatology written by Giuseppe Buonocore and published by Springer. This book was released on 2018-10-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This landmark book, a reference work now in its second edition, provides healthcare practitioners in neonatology with an up-to-date, comprehensive source of readily accessible practical advice that will assist in the expert management of patients and their diverse illnesses. Leading experts in their fields discuss the underlying causes and mechanisms and all aspects of the treatment of the full range of neonatal diseases and abnormalities, citing the evidence base whenever appropriate. In addition, detailed information is provided on epidemiology and fetal medicine; therapeutic issues such as the organization of care, transport services, and home care after discharge; legal issues; nutrition; and the consequences of medication use during pregnancy, maternal drug abuse and smoking, and maternal diabetes. The inclusion of summaries, tables, and carefully selected guidelines and recommendations will supply practitioners with quick references and instant solutions during daily practice. The book will be a superb resource for all involved in the care of newborn babies, including neonatologists, pediatricians, pediatric surgeons, anesthesiologists, midwives, and nursing staff. It is published within the SpringerReference program, which delivers access to living editions constantly updated through a dynamic peer-review publishing process.
Download or read book Capnography written by J. S. Gravenstein and published by Cambridge University Press. This book was released on 2011-03-17 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years capnography has gained a foothold in the medical field and is fast becoming a standard of care in anaesthesiology and critical care medicine. In addition, newer applications have emerged which have expanded the utility of capnographs in a number of medical disciplines. This new edition of the definitive text on capnography reviews every aspect of this valuable diagnostic technique. An introductory section summarises the basic physiology of carbon dioxide generation and transport in the body. A technical section describes how the instruments work, and a comprehensive clinical section reviews the use of capnography to diagnose a wide range of clinical disorders. Edited by the world experts in the technique, and with over 40 specialist contributors, Capnography, second edition, is the most comprehensive review available on the application of capnography in health care.
