Rare Diseases Epidemiology (Registro nro. 205898)

MARC details
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001 - NÚMERO DE CONTROL
control field u378018
003 - IDENTIFICADOR DEL NÚMERO DE CONTROL
control field SIRSI
005 - FECHA Y HORA DE LA ULTIMA TRANSACCIÓN
control field 20160812084532.0
007 - CAMPO FIJO DE DESCRIPCIÓN FIJA--INFORMACIÓN GENERAL
fixed length control field cr nn 008mamaa
008 - ELEMENTOS DE LONGITUD FIJA -- INFORMACIÓN GENERAL
fixed length control field 100917s2010 ne | s |||| 0|eng d
020 ## - NÚMERO INTERNACIONAL NORMALIZADO PARA LIBROS
International Standard Book Number 9789048194858
-- 978-90-481-9485-8
040 ## - FUENTE DE CATALOGACIÓN
Transcribing agency MX-MeUAM
050 #4 - SIGNATURA TOPOGRÁFICA DE LA BIBLIOTECA DEL CONGRESO
Classification number RA648.5-654
082 04 - NÚMERO DE CLASIFICACIÓN DECIMAL DEWEY
Classification number 614.4
Edition number 23
100 1# - ASIENTO PRINCIPAL--NOMBRE PERSONAL
Personal name Posada de la Paz, Manuel.
Relator term editor.
245 10 - MENCIÓN DE TITULO
Title Rare Diseases Epidemiology
Medium [recurso electrónico] /
Statement of responsibility, etc. edited by Manuel Posada de la Paz, Stephen C. Groft.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture Dordrecht :
Name of producer, publisher, distributor, manufacturer Springer Netherlands :
-- Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice 2010.
300 ## - DESCRIPCIÓN FÍSICA
Extent XXII, 542 p.
Other physical details online resource.
336 ## - CONTENT TYPE
Content type term text
Content type code txt
Source rdacontent
337 ## - MEDIA TYPE
Media type term computer
Media type code c
Source rdamedia
338 ## - CARRIER TYPE
Carrier type term online resource
Carrier type code cr
Source rdacarrier
347 ## - DIGITAL FILE CHARACTERISTICS
File type text file
Encoding format PDF
Source rda
490 1# - MENCIÓN DE SERIE
Series statement Advances in Experimental Medicine and Biology,
International Standard Serial Number 0065-2598 ;
Volume/sequential designation 686
505 0# - NOTA DE CONTENIDO
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 ## - NOTA DE RESUMEN, 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.
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650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Medicine.
650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Human genetics.
650 #0 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Epidemiology.
650 14 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Medicine & Public Health.
650 24 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Epidemiology.
650 24 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Human Genetics.
650 24 - ASIENTO SECUNDARIO DE MATERIA - TERMINO TEMÁTICO
Topical term or geographic name as entry element Health Promotion and Disease Prevention.
700 1# - ASIENTO SECUNDARIO - NOMBRE PERSONAL
Personal name Groft, Stephen C.
Relator term editor.
710 2# - ASIENTO SECUNDARIO - NOMBRE CORPORATIVO
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
Relationship information Printed edition:
International Standard Book Number 9789048194841
830 #0 - ASIENTO SECUNDARIO DE SERIE--TITULO UNIFORME
Uniform title Advances in Experimental Medicine and Biology,
International Standard Serial Number 0065-2598 ;
Volume number/sequential designation 686
856 40 - LOCALIZACIÓN Y ACCESO ELECTRÓNICOS
Public note Libro electrónico
Uniform Resource Identifier <a href="http://148.231.10.114:2048/login?url=http://link.springer.com/book/10.1007/978-90-481-9485-8">http://148.231.10.114:2048/login?url=http://link.springer.com/book/10.1007/978-90-481-9485-8</a>
942 ## - TIPO DE MATERIAL (KOHA)
Koha item type Libro Electrónico
Existencias
Estado de retiro Fuente de clasificación Colección Ubicación permanente Ubicación actual Fecha de ingreso Total Checkouts Signatura topográfica Código de barras Date last seen Número de copia Tipo de material
    Colección de Libros Electrónicos Biblioteca Electrónica Biblioteca Electrónica     RA648.5 -654 378018-2001 12/08/2016 1 Libro Electrónico

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