{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T13:42:33Z","timestamp":1768484553050,"version":"3.49.0"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2017-0397_s_999\">\n<jats:title id=\"d4293352e750\">Background<\/jats:title>\n<jats:p>Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2017-0397_s_998\">\n<jats:title id=\"d4293352e758\">Case presentation<\/jats:title>\n<jats:p>The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the <jats:italic>SLC17A5<\/jats:italic> gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2017-0397_s_997\">\n<jats:title id=\"d4293352e769\">Conclusions<\/jats:title>\n<jats:p>Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of <jats:italic>LSD<\/jats:italic> gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2017-0397","type":"journal-article","created":{"date-parts":[[2018,9,22]],"date-time":"2018-09-22T09:05:21Z","timestamp":1537607121000},"page":"1155-1159","source":"Crossref","is-referenced-by-count":2,"title":["Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene"],"prefix":"10.1515","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1184-8798","authenticated-orcid":false,"given":"Tamara","family":"\u017digman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danijela","family":"Petkovi\u0107 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