Rare diseases : integrative pppm approach as the medicine of the future / edited by Meral Özgüç.
Tipo de material:
TextoSeries Advances in Predictive, Preventive and Personalised Medicine ; 6Editor: Dordrecht : Springer Netherlands : Springer, 2015Descripción: xviii, 208 páginas : 12 ilustraciones, 11 ilustraciones en colorTipo de contenido: - texto
- computadora
- recurso en línea
- 9789401792141
- QH324
Contenidos:
National Plans on rare diseases -- Biobanking for rare diseases – Impact on personalized medicine -- Emerging Technologies for Gene Identification in Rare Diseases,- Personalized Medicine for Hereditary Deafness -- Mitochondrial Diseases -- Enzyme Replacement Therapy in Lysosomal Storage Diseases -- Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease -- 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.
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Springer eBooks
National Plans on rare diseases -- Biobanking for rare diseases – Impact on personalized medicine -- Emerging Technologies for Gene Identification in Rare Diseases,- Personalized Medicine for Hereditary Deafness -- Mitochondrial Diseases -- Enzyme Replacement Therapy in Lysosomal Storage Diseases -- Complexity of Genotype-Phenotype Correlations in Mendelian Disorders: Lessons from Gaucher Disease -- 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.
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