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Article

One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosage

2021-12-03

Abstract excerpt

Down syndrome (DS) is the most common chromosomal disorder and it is caused by trisomy of chromosome 21 (Hsa21). Subjects with DS show a large heterogeneity of phenotypes and the most constant clinical features present are typical facies and intellectual disability (ID). Several studies demonstrated that trisomy 21 causes an alteration in the metabolic profile, involving among all one-carbon cycle. We performed en...

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Literature Corpus work
e2c5902a-057d-53ca-a72b-e3e0136b00e1
DOI
10.1101/2021.11.30.470411
Open publication

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One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: relation to chromosomal dosageDOI 10.1101/2021.11.30.470411
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