{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:51:58Z","timestamp":1783695118971,"version":"3.55.0"},"reference-count":25,"publisher":"Baishideng Publishing Group Inc.","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World J Clin Pediatr"],"abstract":"<jats:p>BACKGROUND<\/jats:p>\n          <jats:p>Thus far, genetic analysis of patients clinically diagnosed with glycogen storage diseases (GSDs) in Thailand has not been reported.<\/jats:p>\n          <jats:p>AIM<\/jats:p>\n          <jats:p>To evaluate the clinical and biochemical profiles, molecular analysis and long-term outcomes of Thai children diagnosed with hepatic GSD.<\/jats:p>\n          <jats:p>METHODS<\/jats:p>\n          <jats:p>Children aged &lt; 18 years diagnosed with hepatic GSD and followed up at King Chulalongkorn Memorial Hospital were recruited. Whole-exome sequencing (WES) was performed to identify the causative gene variants. Medical records were assessed.<\/jats:p>\n          <jats:p>RESULTS<\/jats:p>\n          <jats:p>All eight children with histopathologically confirmed diagnosis were classified by WES into subtypes Ia (n  = 1), III (n   = 3), VI (n  = 3), and IX (n  = 1). A total number of 10 variants were identified including G6PC  (n  = 1), AGL  (n  = 4), PYGL  (n  = 5), and PHKA2  (n  = 1). AGL  had two novel variants. The clinical manifestations were hepatomegaly (n  = 8), doll-like facies (n  = 3), wasting (n  = 2), and stunting (n  = 5). All patients showed hypoglycemia, transaminitis, and dyslipidemia. The mainstay of treatment was cornstarch supplementation and high-protein and low-lactose-fructose diet. After a median follow-up time of 9.59 years, height turned to normal for age in 3\/5 patients and none had malnutrition. Liver enzymes, blood sugar, and lipid profiles improved in all.<\/jats:p>\n          <jats:p>CONCLUSION<\/jats:p>\n          <jats:p>Hepatomegaly, transaminitis, and hypoglycemia are the hallmarks of GSD confirmed by liver histopathology. Molecular analysis can confirm the diagnosis or classify the subtype that might benefit from personalized treatment, prognosis, and long-term care.<\/jats:p>","DOI":"10.5409\/wjcp.v13.i4.100493","type":"journal-article","created":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T08:11:48Z","timestamp":1730275908000},"source":"Crossref","is-referenced-by-count":4,"title":["Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand"],"prefix":"10.5409","volume":"13","author":[{"given":"Jaravee","family":"Vanduangden","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rungnapa","family":"Ittiwut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chupong","family":"Ittiwut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teerasak","family":"Phewplung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anapat","family":"Sanpavat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Palittiya","family":"Sintusek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanya","family":"Suphapeetiporn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2060","published-online":{"date-parts":[[2024,12,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2017.11.005"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.06.026"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.932760"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1444"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1177\/0049475520961935"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0270373"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2021-0575"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1155\/2023\/6679871"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2020.08.006"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-86338-4"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e655b6"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107525"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0364-2"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.4251\/wjgo.v13.i11.1680"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318226fbf2"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-118"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-59"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.217"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02431-5"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-014-2354-y"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61547"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.10.009"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24345"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.06.007"}],"container-title":["World Journal of Clinical Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v13\/i4\/100493.htm","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v13\/i4\/100493.htm","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,30]],"date-time":"2024-10-30T08:28:44Z","timestamp":1730276924000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.wjgnet.com\/2219-2808\/full\/v13\/i4\/100493.htm"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,9]]},"references-count":25,"journal-issue":{"issue":"4"},"alternative-id":["100493"],"URL":"https:\/\/doi.org\/10.5409\/wjcp.v13.i4.100493","relation":{},"ISSN":["2219-2808"],"issn-type":[{"value":"2219-2808","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,9]]}}}