Physicians Guide To Rare Diseases


Physicians Guide To Rare Diseases
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Physicians Guide To Rare Diseases


Physicians Guide To Rare Diseases
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Author : Jess G. Thoene
language : en
Publisher: Dowden Publishing
Release Date : 1995

Physicians Guide To Rare Diseases written by Jess G. Thoene and has been published by Dowden Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Clinical medicine categories.


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


Physicians Guide To Rare Diseases
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Author : Jess G. Thoene
language : en
Publisher: Dowden Publishing
Release Date : 1992

Physicians Guide To Rare Diseases written by Jess G. Thoene and has been published by Dowden Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 1992 with Clinical medicine categories.


Guide to diagnosing and treating rare diseases (one affecting fewer than 200,000 Americans,).



Physicians Guide To Rare Diseases


Physicians Guide To Rare Diseases
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Author : Jess G. Thoene
language : en
Publisher: Dowden Publishing
Release Date : 1995

Physicians Guide To Rare Diseases written by Jess G. Thoene and has been published by Dowden Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Medical categories.


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."



Nord Guide To Rare Disorders


Nord Guide To Rare Disorders
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Author : National Organization for Rare Disorders
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2003

Nord Guide To Rare Disorders written by National Organization for Rare Disorders and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Medical categories.


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


Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Science & Business Media
Release Date : 2003

Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases written by Nenad Blau and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Diagnosis, Differential categories.


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.



Physician S Guide To The Treatment And Follow Up Of Metabolic Diseases


Physician S Guide To The Treatment And Follow Up Of Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Science & Business Media
Release Date : 2006-01-16

Physician S Guide To The Treatment And Follow Up Of Metabolic Diseases written by Nenad Blau and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-01-16 with Medical categories.


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 Laboratory Diagnosis Of Metabolic Diseases


Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases
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Author : N. Blau
language : en
Publisher: Springer
Release Date : 2014-08-23

Physician S Guide To The Laboratory Diagnosis Of Metabolic Diseases written by N. Blau and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-08-23 with Science categories.


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.



Rare Diseases And Orphan Drugs


Rare Diseases And Orphan Drugs
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Author : Jules J. Berman
language : en
Publisher: Academic Press
Release Date : 2014-05-26

Rare Diseases And Orphan Drugs written by Jules J. Berman and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-05-26 with Medical categories.


Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.



Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases


Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer
Release Date : 2014-07-08

Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-07-08 with Medical categories.


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.



Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases


Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases
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Author : Nenad Blau
language : en
Publisher: Springer Nature
Release Date : 2022-02-21

Physician S Guide To The Diagnosis Treatment And Follow Up Of Inherited Metabolic Diseases written by Nenad Blau and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-02-21 with Medical categories.


This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com