Article
Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome.
Translational psychiatry - 9 Mar 2022
Korteling Dorinde, Boks Marco P, Fiksinski Ania M, van Hoek Ilja N, Vorstman Jacob A S, Verhoeven-Duif Nanda M, Jans Judith J M, Zinkstok Janneke R
Abstract excerpt
The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typically deleted region in 22q11.2DS contains multiple genes with the potential of altering metabolism. Deficits in metabolic processes during early brain development may help...
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