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...

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Detalles Bibliográficos
Autores principales: Caracausi, Maria, Ghini, Veronica, Locatelli, Chiara, Mericio, Martina, Piovesan, Allison, Antonaros, Francesca, Pelleri, Maria Chiara, Vitale, Lorenza, Vacca, Rosa Anna, Bedetti, Federica, Mimmi, Maria Chiara, Luchinat, Claudio, Turano, Paola, Strippoli, Pierluigi, Cocchi, Guido
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
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

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