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Author: Bruno Bissonnette
Publisher: McGraw-Hill Education / Medical
Published: 2006-08-10
Total Pages: 988
ISBN-13:
DOWNLOAD EBOOKEssential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
Published: 2001
Total Pages: 6338
ISBN-13: 9780071363198
DOWNLOAD EBOOKPresents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
Published: 2016
Total Pages: 657
ISBN-13: 0199972133
DOWNLOAD EBOOKAs 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: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
Published: 2003
Total Pages: 982
ISBN-13: 9780781730631
DOWNLOAD EBOOKNORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: Roger N. Rosenberg
Publisher: Elsevier
Published: 2014-10-28
Total Pages: 1465
ISBN-13: 0124105491
DOWNLOAD EBOOKRosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author: Nenad Blau
Publisher: Springer
Published: 2014-07-08
Total Pages: 880
ISBN-13: 3642403379
DOWNLOAD EBOOKThis 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.
Author: Hussein Yassine
Publisher: Springer
Published: 2015-03-03
Total Pages: 268
ISBN-13: 3319111612
DOWNLOAD EBOOKThis timely, concise title provides an important update on clinical lipid management. Using information from recent clinical trials and in special populations, the book begins by offering an easy-to-read overview of LDL, HDL, and triglyceride metabolism and the genetics of lipid disorders. The link between inflammation and lipids, and how this relates to atherosclerosis development, is also addressed, as are the measures of subclinical atherosclerosis in patients with abnormal lipid levels. Lipid abnormalities in children, with a particular focus on vulnerable populations (with an emphasis on ethnicity and childhood obesity), are covered. The treatment goals and approaches for managing lipids in the clinic are thoroughly discussed, emphasizing the important role of statin use and addressing controversies of lipid management in special populations such as heart failure, end stage kidney disease and fatty liver disease. Of special note, an important update on how new HIV medications impact lipid levels is provided. In all, Lipid Management: From Basics to Clinic, is an invaluable, handy resource for understanding changes in lipids in different populations and for sharpening the clinical approach to managing complicated lipid cases.
Author: Juan M. Pascual
Publisher: Cambridge University Press
Published: 2017-04-20
Total Pages: 507
ISBN-13: 1107042054
DOWNLOAD EBOOKA review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author: Christie M. Ballantyne
Publisher: Elsevier Health Sciences
Published: 2009-01-01
Total Pages: 605
ISBN-13: 1416054693
DOWNLOAD EBOOKClinical Lipidology, a companion to Braunwald's Heart Disease, is designed to guide you through the ever-changing therapeutic management of patients with high cholesterol levels. From basic science to pathogenesis of atherothrombotic disease, to risk assessment and the latest therapy options, this medical reference book offers unparalleled coverage and expert guidance on lipidology in a straightforward, accessible, and user-friendly style. Get authoritative guidance from some of the foremost experts in the field. Easily access key content with help from treatment algorithms. Access options and evidence-based solutions for every type of patient scenario, as well as the latest clinical guidelines and clinically relevant evidence on risk assessment, special patient populations, and therapy, including recently approved and experimental therapies. Remain at the forefront of the cardiology field with up-to-date chapters on treatment guidelines; diet, exercise, and weight loss; pharmacologic therapies such as statins, omega-3 fatty acids, and combination therapy; evolving targets of therapy such as PCSK9 inhibition, CETP inhibition, and inflammation Prepare for special patient populations such as children and adolescents; women and the elderly; transplant recipients; HIV patients; and those with chronic renal disease, familial hypercholesterolemia, other severe hypercholesterolemias, diabetes, or other metabolic syndromes. Take advantage of a format that follows that of the well-known and internationally recognized Braunwald's Heart Disease. Expert Consult eBook version included with purchase.
Author: Aubie Angel
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 300
ISBN-13: 1468412620
DOWNLOAD EBOOKCurrent interest in lipoprotein deficiency states stems from the growing realization of their importance in the etiology of premature coronary heart disease. While hypercholesterolemia and coronary heart disease risk are strongly correlated in their etiologic relationship, it is becoming equally clear that deficiencies in HDL, whether congenital or acquired, also enhance the risk for the future development of coronary atherosclerosis. This has led to renewed attention to the lipid hypothesis and realization of the fact that each lipoprotein class and apoprotein species has specific functions in the transport and cellular uptake of various lipids. It is a truism that a biochemical correlate of disease once identified is subsequently recognized with increasing frequency in clinical medicine. The story of HDL was no exception. Indeed hypoalphalipoproteinemia appears to be a disease of high prevalence approaching and perhaps even exceeding that of familial hypercholesterolemia. Its clinical signifi cance escaped our notice for many years largely due to a heavy emphasis on hypercholesterolemia and to difficulties in measuring HDL reliably.
