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The Down syndrome (DS) population represents the largest group of individuals with multiple organs and systems disabilities, accompanied by neurodevelopmental and neurodegenerative pathologies arising from the triplication of the human chromosome 21. In this chapter, we present a brief overview of salient features of DS pathophysiology and the status of potential treatments targeting the underlying metabolic alterations typical of DS.

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Down Syndrome

  • 章节

  • 发表日期：

    2026年

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  • Maria D. Torres,
  • Isabel Rivera,
  • Jorge Busciglio

摘要

The Down syndrome (DS) population represents the largest group of individuals with multiple organs and systems disabilities, accompanied by neurodevelopmental and neurodegenerative pathologies arising from the triplication of the human chromosome 21. In this chapter, we present a brief overview of salient features of DS pathophysiology and the status of potential treatments targeting the underlying metabolic alterations typical of DS.