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04423nam a22003615i 4500 |
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20210922160438.0 |
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cr nn 008mamaa |
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171206s2017 gw | s |||| 0|eng d |
| 020 |
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|a 9783319671444
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| 024 |
7 |
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|a 10.1007/978-3-319-67144-4
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
1 |
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|a Rare Diseases Epidemiology: Update and Overview /
|c edited by Manuel Posada de la Paz, Domenica Taruscio, Stephen C. Groft.
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| 250 |
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|a 2nd ed. 2017.
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| 260 |
# |
# |
|a Cham :
|b Springer International Publishing :
|b Imprint: Springer,
|c 2017.
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| 300 |
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|a XXXVI, 667 p. 30 illus. :
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a Advances in Experimental Medicine and Biology,
|v 1031
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| 505 |
0 |
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|a Part I Introduction -- Rare Diseases: Joining Mainstream Research and Treatment Based on Reliable Epidemiological Data -- Part II Rare diseases diagnosis -- Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis -- Intellectual disability & rare disorders: A diagnostic challenge -- Improved diagnosis and care for rare diseases through implementation of a precision public health framework -- Part III Registries, Natural History of Rare Diseases and Biobanks -- Natural history, trial readiness and gene discovery: advances in patient registries for neuromuscular disease -- Facilitating Clinical Studies in Rare Diseases -- Rare Diseases Biospecimens and patient registries: Interoperability for research promotion, a European example: EuroBioBank and Spain RDR-BioNER -- Data Quality in Rare Diseases Registries -- Preparing data at the source to foster interoperability across r are disease resources -- Part IV Orphan drugs and therapies -- Incentivizing orphan product development: United States Food and Drug Administration orphan incentive programs -- Post-approval Studies for Rare Disease Treatments and Orphan Drugs -- Evidence-Based Medicine and Rare Diseases -- Health technology assessment and appraisal of therapies for rare diseases -- New Therapeutic Uses for Existing Drugs -- Patient empowerment and involvement in research -- Part V Cost-Effectiveness and Cost-of-illness -- Cost-effectiveness methods and newborn screening assessment -- Cost-of-illness in rare diseases -- Part VI Rare Diseases Prevention -- Primary prevention of congenital anomalies: special focus on environmental chemicals and other toxicants, maternal health and health services and infectious diseases -- Newborn Screening: Beyond the Spot -- Part VII New Research Perspectives in RD -- A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC) -- Prospects of Pluripotent and Adult Stem Cells for Rare Diseases -- Personalized Medicine: What's in for Rare Diseases? -- Microphysiological systems (tissue chips) and their utility for rare disease research -- Part VIII Rare Diseases Epidemiology -- Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge -- Rare neurodegenerative diseases: clinical and genetic aspects -- Immunological rare diseases -- Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity -- Mortality Statistics and their Contribution to Improving Rare Diseases Epidemiology: the Example of Hereditary Ataxia in Europe -- Congenital Anomalies: Cluster detection and investigation -- Part IX Rare Diseases policies and society -- The European Union Policy in the Field of Rare Diseases -- The role of solidarity(-ies) in rare diseases research -- Bridging the gap between health and social care for rare diseases: key issues and innovative solutions -- Health systems sustainability and rare diseases -- Preparing for the Future of Rare Diseases -- Index.
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| 650 |
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|a Health promotion.
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| 650 |
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|a Human genetics.
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| 650 |
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0 |
|a Epidemiology.
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| 650 |
1 |
4 |
|a Health Promotion and Disease Prevention.
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| 650 |
2 |
4 |
|a Human Genetics.
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| 650 |
2 |
4 |
|a Epidemiology.
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| 700 |
1 |
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|a Posada de la Paz, Manuel.
|e editor.
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| 700 |
1 |
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|a Taruscio, Domenica.
|e editor.
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| 700 |
1 |
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|a Groft, Stephen C.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
0 |
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|t Springer eBooks
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| 900 |
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|a Libro descargado a ALEPH en bloque (proveniente de proveedor)
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