{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:46Z","timestamp":1791828586400,"version":"4.3.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T00:00:00Z","timestamp":1603756800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Trop Doct"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>We aimed to determine the clinical profile and outcome of Indian children with glycogen storage disorders. Ours was a retrospective study from 2005 to 2018 in 36 children diagnosed on the basis of a liver biopsy. Most (77.7%) presented with abdominal swelling but a quarter with convulsion, four of whom had documented hypoglycaemia associated, doll-like facies or developmental delay. Diarrhoea was found in four patients, ascites in two and portal hypertension in one. One child died, and over half were unfortunately lost to follow-up, though the rest had recurrent seizures, three more developed neutropenia, two recurrent infections, one portal hypertension with epistaxis, one nephrocalcinosis and liver adenoma. Liver function improved in six (37.5%) with normalisation of triglycerides, and four of serum transaminases.<\/jats:p>","DOI":"10.1177\/0049475520961935","type":"journal-article","created":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T23:57:53Z","timestamp":1603843073000},"page":"189-192","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical profile and outcome of glycogen storage disease in Indian children"],"prefix":"10.1177","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4317-9288","authenticated-orcid":false,"given":"Vishrutha","family":"Poojari","sequence":"first","affiliation":[{"name":"Pediatric Liver Clinic, B. J. Wadia Hospital for Children, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ira","family":"Shah","sequence":"additional","affiliation":[{"name":"Pediatric Liver Clinic, B. J. Wadia Hospital for Children, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3600-126X","authenticated-orcid":false,"given":"Naman S","family":"Shetty","sequence":"additional","affiliation":[{"name":"Pediatric Liver Clinic, B. J. Wadia Hospital for Children, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Mirani","sequence":"additional","affiliation":[{"name":"Pediatric Liver Clinic, B. J. Wadia Hospital for Children, Mumbai, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Drishti","family":"Tolani","sequence":"additional","affiliation":[{"name":"Pediatric Liver Clinic, B. J. 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