Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation.

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Title: Metabolic signature of the pathogenic 22q11.2 deletion identifies carriers and provides insight into systemic dysregulation.
Authors: Courraud J; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark.; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Laboratory of Analytical Chemistry, Department of Chemistry, National and Kapodistrian University of Athens, Panepistimiopolis Zografou, 15771, Athens, Greece.; Department of Clinical Therapeutics, School of Medicine, National and Kapodistrian University of Athens, Alexandra Hospital, Leof. Vasilissis Sofias 80, Athens, 11528, Greece., Russo F; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark., Themudo GE; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Institute of Biological Psychiatry, Copenhagen University Hospital, Copenhagen Mental Health Services, Kristineberg 3, DK-2100, Copenhagen Ø, Denmark.; CIIMAR, Interdisciplinary Centre of Marine and Environmental Research, University of Porto, Terminal de Cruzeiros do Porto de Leixões, Avenida General Norton de Matos, S/N, 4450-208, Matosinhos, Portugal.; Centre for Ecology, Evolution and Environmental Changes (CE3C), Faculdade de Ciências da Universidade de Lisboa, Campo Grande, 1749-016, Lisboa, Portugal., Laursen SS; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark.; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark., Ingason A; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark.; Institute of Biological Psychiatry, Mental Health Center Sankt Hans, DK-4000, Roskilde, Denmark., Hougaard DM; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark.; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark., Cohen AS; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark.; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark., Werge T; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark. thomas.werge@regionh.dk.; Institute of Biological Psychiatry, Copenhagen University Hospital, Copenhagen Mental Health Services, Kristineberg 3, DK-2100, Copenhagen Ø, Denmark. thomas.werge@regionh.dk.; Department of Clinical Sciences, Faculty of Health, University of Copenhagen, Blegdamsvej 3, DK-2200, København N, Denmark. thomas.werge@regionh.dk.; GLOBE Institute, LF Center for GeoGenetics, Faculty of Health, University of Copenhagen, Oester Voldgade 5-7, 1350, Copenhagen K, Denmark. thomas.werge@regionh.dk., Ernst M; Section for Clinical Mass Spectrometry, Danish Center for Neonatal Screening, Department of Congenital Disorders, Statens Serum Institut, Artillerivej 5, DK-2300, Copenhagen S, Denmark. maet@ssi.dk.; iPSYCH, The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Copenhagen, Denmark. maet@ssi.dk.
Source: Translational psychiatry [Transl Psychiatry] 2023 Dec 14; Vol. 13 (1), pp. 391. Date of Electronic Publication: 2023 Dec 14.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:2158-3188
DOI:10.1038/s41398-023-02697-8