TY - GEN AU - Žigman,Tamara AU - Petković Ramadža,Danijela AU - Lušić,Mario AU - Zekušić,Marija AU - Ninković,Dorotea AU - Gardijan,Danilo AU - Potočki,Kristina AU - Omerza,Lana AU - Beljan,Lucija AU - Žarković,Kamelija AU - Kerkhof,Jennifer AU - Ljubojević,Marija AU - de Sain-van der Velden,Monique AU - Vuković,Jurica AU - Fumić,Ksenija AU - Sadiković,Bekim AU - Barić,Ivo TI - Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene SN - 2191-0251 PY - 2019///0121 KW - Agammaglobulinemia KW - blood KW - Brain KW - diagnostic imaging KW - Humans KW - Infant KW - Magnetic Resonance Imaging KW - Male KW - Mutation KW - Organic Anion Transporters KW - genetics KW - Sialic Acid Storage Disease KW - Symporters KW - Ultrasonography N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1515/jpem-2017-0397 ER -