5 Result(s)
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Article
Open AccessA reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical di...
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Article
Open AccessCognitive profiles in children and adolescents with Down syndrome
The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal skills and deficits in verbal processing, but high interindividual variability has been registered in the syndrome....
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Article
Open AccessOne-carbon pathway and cognitive skills in children with Down syndrome
This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genoty...
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Article
Open AccessPlasma metabolome and cognitive skills in Down syndrome
Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a s...
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Article
Open AccessPlasma 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 distinct...
