| Description |
1 online resource (XVIII, 208 pages 12 illustrations, 11 illustrations in color). |
| Series |
Advances in predictive, preventive, and personalised medicine ; volume 6 |
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Advances in predictive, preventive and personalised medicine ; volume 6.
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| Contents |
National plans on rare diseases -- Biobanking for rare diseases : Impact on personalised medicine -- Emerging technologies for gene identification in rare diseases -- Personalized medicine for hereditary deafness -- Mitochondrial diseases -- Complexity of genotype-phenotype correlations in Mendelian disorders : lessons from Gaucher disease -- Enzyme replacement therapy in lysosomal storage diseases -- Rare cancers -- Adeno-associated virus gene therapy and its application to the prevention and personalized treatment of rare diseases -- Induced pluripotency for the study of disease mechanisms and cell therapy. |
| Note |
Title from PDF title page (Ebsco; viewed on Sept. 17, 2014). |
| Summary |
This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent "proof-of-principles" for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy, induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations in Mendelian disorders. |
| Subject |
Rare diseases.
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Cytology.
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Cytology_xResearch_xMethodology.
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Life sciences.
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Metabolism -- Disorders.
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Pediatrics.
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Rare diseases. (OCoLC)fst01090123
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| Added Author |
Özgüç, Meral, 1951- editor.
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| Other Form: |
Print version: Rare Diseases : Integrative PPPM Approach as the Medicine of the Future. Dordrecht : Springer Netherlands, ©2014 9789401792134 |
| ISBN |
9789401792141 (electronic bk.) |
|
9401792143 (electronic bk.) |
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