Physicians Guide To Rare Diseases
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Physicians Guide to Rare Diseases
Author | : Jess G. Thoene |
Publsiher | : Dowden Publishing |
Total Pages | : 1056 |
Release | : 1995 |
Genre | : Medical |
ISBN | : UOM:39015047724284 |
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This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the opportunity for early diagnosis & treatment. Special features include: * A full color atlas of visual clues, cross referenced to disease listings. * Thirteen separate specialty sections with an expert overview to introduce each section. Eminent clinicians from the outstanding research centers in rare diseases give you the current status of research & practical approaches to diagnosis & therapy of the rare diseases in that specialty. * Full reference to more than 250 orphan drugs. Each drug is cross referenced to the appropriate disease description. * Clear language for the Layperson. Though written for physicians, the descriptions of diseases, symptoms & treatments are clear & understandable for patients, educators & others outside the medical profession. Each disease description provides symptomatology, etiology, affected population & a comparison of related disorders. Each disease description contains a list of other resources to consult: voluntary agencies, units of the National Institutes of Health, research centers around the country, etc. Addresses & phone numbers are provided in a central reference. Library Journal: "...PHYSICIAN'S GUIDE...is recommended for medical collections & public libraries with consumer health collections."
Physicians Guide to Rare Diseases
Author | : Jess G. Thoene,Doris C. Smith,National Organization for Rare Disorders |
Publsiher | : Dowden Publishing |
Total Pages | : 1230 |
Release | : 1992 |
Genre | : Clinical medicine |
ISBN | : UOM:39015046953926 |
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Guide to diagnosing and treating rare diseases (one affecting fewer than 200,000 Americans,).
NORD Guide to Rare Disorders
Author | : National Organization for Rare Disorders |
Publsiher | : Lippincott Williams & Wilkins |
Total Pages | : 982 |
Release | : 2003 |
Genre | : Medical |
ISBN | : 0781730635 |
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NORD 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.
Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases
Author | : N. Blau,M. Duran,M.E. Blaskovics,K.M. Gibson |
Publsiher | : Springer Science & Business Media |
Total Pages | : 732 |
Release | : 2012-12-06 |
Genre | : Science |
ISBN | : 9783642558788 |
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This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
Physician s Guide to the Treatment and Follow Up of Metabolic Diseases
Author | : Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke |
Publsiher | : Springer Science & Business Media |
Total Pages | : 404 |
Release | : 2006-01-16 |
Genre | : Medical |
ISBN | : 9783540289623 |
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This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
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 | : 867 |
Release | : 2014-07-08 |
Genre | : Medical |
ISBN | : 9783642403378 |
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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.
Rare Diseases and Orphan Products
Author | : Institute of Medicine,Board on Health Sciences Policy,Committee on Accelerating Rare Diseases Research and Orphan Product Development |
Publsiher | : National Academies Press |
Total Pages | : 442 |
Release | : 2011-04-03 |
Genre | : Medical |
ISBN | : 9780309158060 |
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Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.
Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases
Author | : Nenad Blau |
Publsiher | : Springer Science & Business Media |
Total Pages | : 770 |
Release | : 2003 |
Genre | : Diagnosis, Differential |
ISBN | : 354042542X |
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Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.