{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:10:11Z","timestamp":1758161411035,"version":"3.44.0"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a 29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the trunk since birth. The antenatal history was unremarkable. Clinical laboratory findings included coarse facies, hepatosplenomegaly, gross ascites, thrombocytopenia, nephrotic range proteinuria, and bilateral hydronephrosis. The diagnostic challenge was resolved after genetic testing, which revealed GS with a novel homozygous c.1158dupA mutation.<\/jats:p>","DOI":"10.1055\/s-0041-1731776","type":"journal-article","created":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T01:22:56Z","timestamp":1627608176000},"page":"325-328","source":"Crossref","is-referenced-by-count":1,"title":["Infantile Galactosialidosis with Novel Mutation: An Early Presentation"],"prefix":"10.53391","volume":"12","author":[{"given":"Sonia","family":"Sharma","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department Pediatric, Fortis Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shailesh","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department Pediatric, Max Superspeciality Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. P.","family":"Mehta","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department Pediatric, Max Superspeciality Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Poonam","family":"Sidana","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department Pediatric, Fortis Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"issue":"02","key":"ref1","first-page":"137","article-title":"Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes","volume":"38","author":"S Palmeri","year":"1986","journal-title":"Am J Hum Genet"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"979","DOI":"10.3390\/cells9040979","article-title":"Cathepsins in the pathophysiology of mucopolysaccharidoses: new perspectives for therapy","volume":"9","author":"V De 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