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A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome

  • The critical need for awareness and genetic testing of the SAMHD1 deletion in Ashkenazi Jewish patients is highlighted owing to its relatively high carrier frequency. Early detection can prevent severe disease complications through targeted therapy.

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Metadaten
Document Type:Article
Language:English
Author:Oskar Schnappauf, Hongying Wang, Ivona Aksentijevich, Daniel L. Kastner, Ronald M. Laxer
Parent Title (English):Journal of Allergy and Clinical Immunology: Global
Volume:4
Issue:2
Article Number:100400
Number of pages:3
ISSN:2772-8293
URN:urn:nbn:de:hbz:1044-opus-88578
URL:https://www.sciencedirect.com/science/article/pii/S2772829325000013
DOI:https://doi.org/10.1016/j.jacig.2025.100400
PMID:https://pubmed.ncbi.nlm.nih.gov/39906892
Publisher:Elsevier
Publishing Institution:Hochschule Bonn-Rhein-Sieg
Date of first publication:2025/01/03
Copyright:(c) 2025 The Authors. Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY license
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IFGA)
Dewey Decimal Classification (DDC):6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Open access funding:Deutsche Forschungsgemeinschaft / DFG Förderung Open Access Publikationskosten 2023 - 2025
Entry in this database:2025/01/28
Licence (German):License LogoCreative Commons - CC BY - Namensnennung 4.0 International