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Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism
Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinctive facies and cognitive impairment. We conducted for the first time an analysis of the Nuc...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813015/ https://www.ncbi.nlm.nih.gov/pubmed/29445163 http://dx.doi.org/10.1038/s41598-018-20834-y |