TY  - JOUR
U1  - Wissenschaftlicher Artikel
A1  - Schnappauf, Oskar
A1  - Wang, Hongying
A1  - Aksentijevich, Ivona
A1  - Kastner, Daniel L.
A1  - Laxer, Ronald M.
T1  - A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome
JF  - Journal of Allergy and Clinical Immunology: Global
N2  - 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.
Y1  - 2025
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-88578
SN  - 2772-8293
SS  - 2772-8293
U6  - https://doi.org/10.1016/j.jacig.2025.100400
DO  - https://doi.org/10.1016/j.jacig.2025.100400
PM  - 39906892
VL  - 4
IS  - 2
SP  - 3
S1  - 3
PB  - Elsevier
ER  -