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Rare Diseases Epidemiology (Record no. 18515)

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003 - CONTROL NUMBER IDENTIFIER
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005 - DATE AND TIME OF LATEST TRANSACTION
control field 20140310150248.0
007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION
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008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 100917s2010 ne | s |||| 0|eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 9789048194858
978-90-481-9485-8
050 #4 - LIBRARY OF CONGRESS CALL NUMBER
Classification number RA648.5-654
082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 614.4
Edition number 23
264 #1 -
-- Dordrecht :
-- Springer Netherlands :
-- Imprint: Springer,
-- 2010.
912 ## -
-- ZDB-2-SBL
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Posada de la Paz, Manuel.
Relator term editor.
245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE
Title Rare Diseases Epidemiology
Medium [electronic resource] /
Statement of responsibility, etc edited by Manuel Posada de la Paz, Stephen C. Groft.
300 ## - PHYSICAL DESCRIPTION
Extent XXII, 542 p.
Other physical details online resource.
440 1# - SERIES STATEMENT/ADDED ENTRY--TITLE
Title Advances in Experimental Medicine and Biology,
International Standard Serial Number 0065-2598 ;
Volume number/sequential designation 686
505 0# - FORMATTED CONTENTS NOTE
Formatted contents note Rare Diseases -- Rare Diseases – Avoiding Misperceptions and Establishing Realities: The Need for Reliable Epidemiological Data -- Methods and Approaches -- Rare Diseases Epidemiology Research -- Evidence-Based Medicine and Rare Diseases -- Prevention, Diagnosis and Services -- The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases -- Patient Registries: Utility, Validity and Inference -- Biobanking in Rare Disorders -- Evaluation of the Validity and Utility of Genetic Testing for Rare Diseases -- Population-Based Surveillance for Rare Congenital and Inherited Disorders: Models and Challenges -- Statistical Methods for the Geographical Analysis of Rare Diseases -- Clinical Trials and Rare Diseases -- Pharmacoepidemiology -- A Regulatory Overview About Rare Diseases -- Economics and Social Epidemiology -- Economic Considerations in the Provision of Treatments for Rare Diseases -- Rare Diseases Social Epidemiology: Analysis of Inequalities -- Quality of Life and Rare Diseases -- Cost of Illness and Economic Evaluation in Rare Diseases -- Epidemiology of Group of Rare Diseases -- The Burden of Rare Cancers in Europe -- Hereditary Channelopathies in Neurology -- Osteochondral Diseases and Fibrodysplasia Ossificans Progressiva -- The Prevalence of Congenital Anomalies in Europe -- Rare Autoimmune Diseases -- Epidemiology of Rare Anaemias in Europe -- Inherited Metabolic Rare Disease -- The Contribution of Rare Diseases to Understanding the Epidemiology of Neurodevelopmental Disabilities -- Policy and Ethics Issues in Rare Diseases -- Creating a European Union Framework for Actions in the Field of Rare Diseases -- National Plans and Strategies on Rare Diseases in Europe -- Ethical Aspects on Rare Diseases -- Patient Organizations Role -- Advocacy Groups and Their Role in Rare Diseases Research.
520 ## - SUMMARY, ETC.
Summary, etc 'Rare Diseases Epidemiology' offers numerous approaches to increase the knowledge base of rare diseases and conditions and to facilitate the development and dissemination of interventions for the prevention, diagnosis, or treatment of over 6500 diseases and conditions. The goals of epidemiology are not restricted merely to providing numerical data on the prevalence or incidence of diseases in a limited or general population. Analyses of epidemiological data gathered from appropriately designed and conducted studies are required to establish public health policies and priorities in all nations. Information gained from these studies lead to a better understanding of the etiology and the impact of genetic or environmental factors on the occurrence and outcome of these disorders. The term Rare Diseases includes both acquired and inherited disorders. 'Rare Diseases Epidemiology' provides methods and approaches from the collective experiences of established research investigators who address these significant issues of the development of patient registries; the collection, storage and selected distribution of bio-specimens from bio-banking activities; the validation and utilization of genetic testing and newborn screening procedures; the presentation of issues related to the importance of case reports to increase knowledge of rare diseases; the challenges and models for population-based surveillance studies for rare congenital and inherited disorders; the statistical methods for the geographical analyses of rare diseases; the value and need for clinical trials and comparative effective studies; and meeting the requirements of regulatory agencies. Economic, societal, and ethical concerns are presented as patients and families encounter difficulties obtaining the correct diagnosis, gaining access to treatments, and receiving coverage or reimbursement for approved interventions, and for developing a public understanding of the costs to patients and their families and the burden of illness affecting the quality of life of millions of patients with rare diseases and conditions. Framework programs for rare diseases research as developed by the European Union and the value of national plans for individual member countries are discussed and represent the public commitment to patients with rare diseases. Likewise, similar programs have been implemented in the USA as a result of the Orphan Drug Act to address the needs of the rare diseases community.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element Medicine.
Topical term or geographic name as entry element Human genetics.
Topical term or geographic name as entry element Epidemiology.
Topical term or geographic name as entry element Medicine & Public Health.
Topical term or geographic name as entry element Epidemiology.
Topical term or geographic name as entry element Human Genetics.
Topical term or geographic name as entry element Health Promotion and Disease Prevention.
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Groft, Stephen C.
Relator term editor.
710 2# - ADDED ENTRY--CORPORATE NAME
Corporate name or jurisdiction name as entry element SpringerLink (Online service)
773 0# - HOST ITEM ENTRY
Title Springer eBooks
776 08 - ADDITIONAL PHYSICAL FORM ENTRY
Display text Printed edition:
International Standard Book Number 9789048194841
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier http://dx.doi.org/10.1007/978-90-481-9485-8
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme
Item type E-Book
Copies
Price effective from Permanent location Date last seen Not for loan Date acquired Source of classification or shelving scheme Koha item type Damaged status Lost status Withdrawn status Current location Full call number
2014-04-08AUM Main Library2014-04-08 2014-04-08 E-Book   AUM Main Library614.4
Languages: 
English |
العربية