Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome

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 w...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907226/
https://www.ncbi.nlm.nih.gov/pubmed/35264571
http://dx.doi.org/10.1038/s41398-022-01859-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907226/
https://www.ncbi.nlm.nih.gov/pubmed/35264571
http://dx.doi.org/10.1038/s41398-022-01859-4

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