The Neuronal Ceroid Lipofuscinoses Batten Disease
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The Neuronal Ceroid Lipofuscinoses Batten Disease
Author | : Sara Mole,Ruth Williams,Hans Goebel |
Publsiher | : OUP Oxford |
Total Pages | : 480 |
Release | : 2011-03-10 |
Genre | : Medical |
ISBN | : 9780191015588 |
Download The Neuronal Ceroid Lipofuscinoses Batten Disease Book in PDF, Epub and Kindle
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Progressive Brain Disorders in Childhood
Author | : Juan M. Pascual |
Publsiher | : Cambridge University Press |
Total Pages | : 507 |
Release | : 2017-04-20 |
Genre | : Medical |
ISBN | : 9781107042056 |
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A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Neuronal ceroid lipofuscinosis a multidisciplinary update
Author | : Alessandro Simonati,Ruth Elizabeth Williams,Angela Schulz |
Publsiher | : Frontiers Media SA |
Total Pages | : 111 |
Release | : 2022-12-08 |
Genre | : Medical |
ISBN | : 9782832509074 |
Download Neuronal ceroid lipofuscinosis a multidisciplinary update Book in PDF, Epub and Kindle
Atlas of Epilepsies
Author | : S.R. Benbadis,R.G. Beran,A.T. Berg,J. Engel, Jr.,A.S. Galanopoulou,P.W. Kaplan,M. Koutroumanidis,S.L. Moshe,D.R. Nordli, Jr.,J.M. Serratosa,S.M. Sisodiya,W.O. Tatum,T. Valeta,A. Wilner |
Publsiher | : Springer Science & Business Media |
Total Pages | : 1966 |
Release | : 2010-09-20 |
Genre | : Medical |
ISBN | : 9781848821279 |
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Atlas of Epilepsies is a landmark, all-encompassing, illustrated reference work and hands-on guide to the diagnosis, management and treatment of epilepsy in all its forms and across all age groups. The premier text in the field with over one thousand images, the Atlas’s highly illustrative approach tackles the difficult subject of epileptic seizures and epileptic syndromes, accompanied by sequential photographs of each management step. Intraoperative photographs are accompanied by detailed figure legends describing nuances, subtleties, and the thought processes involved in each step, providing a fuller understanding of each procedure. The Atlas draws on the expertise of over 300 internationally-renowned experts, and is liberally interspersed with clinical insights and personal vignettes that offer helpful tips, technical advice and critical knowledge to the clinician and scholar. The thorough and complete table of contents includes dedicated sections or chapters on important topics such as neonatal and pediatric seizures; imitators of epilepsy; EEG and neuroimaging; psychiatric and quality of life aspects of epilepsy; and a complete guide to treatment options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. No other publication addresses epilepsies as thoroughly and completely as the Atlas of Epilepsies. Exhaustive and illustrative, convenient and current, this reference is sure to be the premier text on epilepsy for many years to come.
The Neuronal Ceroid Lipofuscinoses Batten Disease
Author | : Sara Mole,Ruth Williams,Hans Goebel |
Publsiher | : Oxford University Press |
Total Pages | : 475 |
Release | : 2011-03-10 |
Genre | : Medical |
ISBN | : 9780199590018 |
Download The Neuronal Ceroid Lipofuscinoses Batten Disease Book in PDF, Epub and Kindle
This second edition is the definitive reference text on the neuronal ceroid lipofuscinoses (NCLs; also known as 'Batten Disease').
Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases
Author | : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici |
Publsiher | : Springer |
Total Pages | : 880 |
Release | : 2014-07-08 |
Genre | : Medical |
ISBN | : 9783642403378 |
Download Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases Book in PDF, Epub and Kindle
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.
Inherited Chorioretinal Dystrophies
Author | : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder |
Publsiher | : Springer |
Total Pages | : 488 |
Release | : 2014-07-19 |
Genre | : Medical |
ISBN | : 9783540694663 |
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This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
Neurogenetics
Author | : Anonim |
Publsiher | : Elsevier |
Total Pages | : 480 |
Release | : 2018-01-09 |
Genre | : Medical |
ISBN | : 9780444640772 |
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Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. Contains comprehensive coverage of neurogenetics Details the latest science and its impact on our understanding of neurological, psychiatric disorders Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community