Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman, Tamara
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. [electronic resource] - Journal of pediatric endocrinology & metabolism : JPEM Oct 2018 - 1155-1159 p. digital
Publication Type: Case Reports; Journal Article
2191-0251
10.1515/jpem-2017-0397 doi
Agammaglobulinemia--blood
Brain--diagnostic imaging
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation
Organic Anion Transporters--genetics
Sialic Acid Storage Disease--blood
Symporters--genetics
Ultrasonography
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. [electronic resource] - Journal of pediatric endocrinology & metabolism : JPEM Oct 2018 - 1155-1159 p. digital
Publication Type: Case Reports; Journal Article
2191-0251
10.1515/jpem-2017-0397 doi
Agammaglobulinemia--blood
Brain--diagnostic imaging
Humans
Infant
Magnetic Resonance Imaging
Male
Mutation
Organic Anion Transporters--genetics
Sialic Acid Storage Disease--blood
Symporters--genetics
Ultrasonography