{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:20Z","timestamp":1780308080186,"version":"3.54.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:00:00Z","timestamp":1773014400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:00:00Z","timestamp":1773014400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (12 IIIa, 1 IIIb), 1 (0.8%) type IV, 6 (4.5%) type VI, and 49 (37.1%) with type IX (28 IXa, 7 IXb, and 14 IXc). Type I patients presented earlier (4\u2009months) and had more episodes of hypoglycemia at clinical presentation (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.001). Anthropometric data at admission revealed impaired growth, with a tendency toward short stature across the groups (median \u22122.06, \u22121.89, and \u22121.96 among type I, III, and IX respectively). The median body mass index (BMI)\n                    <jats:italic>z<\/jats:italic>\n                    \u2010scores at admission for all three types were above +1. Only patients with type IX demonstrated significant improvement in height (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.007) and BMI (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.020)\n                    <jats:italic>z<\/jats:italic>\n                    \u2010scores during follow\u2010up. Regarding laboratory tests, significant decreases were observed in total cholesterol, triglycerides, venous lactate and aminotransferases in patients with types I and IX. Hepatic GSDs are heterogeneous diseases. There is a significant height impairment with a troublesome trend to overweight and obesity, especially in type I. Although there is improvement in aminotransferases, cholesterol, and triglycerides with follow\u2010up, adherence to treatment remains a challenge.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70115","type":"journal-article","created":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T08:54:33Z","timestamp":1773046473000},"page":"1591-1600","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1535-9120","authenticated-orcid":false,"given":"Mariana Pena","family":"Costa","sequence":"first","affiliation":[{"name":"Pediatric's Department Federal University of Minas Gerais (UFMG)  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6749-8980","authenticated-orcid":false,"given":"Alexandre Rodrigues","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Pediatric's Department Federal University of Minas Gerais (UFMG)  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1735-5073","authenticated-orcid":false,"given":"Adriana Teixeira","family":"Rodrigues","sequence":"additional","affiliation":[{"name":"Pediatric's Department Federal University of Minas Gerais (UFMG)  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5041-1102","authenticated-orcid":false,"given":"Rodrigo Rezende","family":"Arantes","sequence":"additional","affiliation":[{"name":"Pediatric's Department Federal University of Minas Gerais (UFMG)  Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9917-9749","authenticated-orcid":false,"given":"Thais Costa Nascentes","family":"Queiroz","sequence":"additional","affiliation":[{"name":"Pediatric's Department Federal University of Goi\u00e1s (UFG)  Goi\u00e2nia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5079-5011","authenticated-orcid":false,"given":"Elisa","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Sector Jos\u00e9 Alencar Children's Hospital of Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0274-6274","authenticated-orcid":false,"given":"Gilda","family":"Porta","sequence":"additional","affiliation":[{"name":"Hepatology and Liver Transplant Sectors Menino Jesus Children's Hospital  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9400-6697","authenticated-orcid":false,"given":"Irene Kazue","family":"Miura","sequence":"additional","affiliation":[{"name":"Hepatology and Liver Transplant Sectors Menino Jesus Children's Hospital  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9111-9562","authenticated-orcid":false,"given":"Maria Tereza Galv\u00e3o","family":"Guiotti","sequence":"additional","affiliation":[{"name":"Pediatric's Department University of S\u00e3o Paulo (USP\u2010SP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0909-551X","authenticated-orcid":false,"given":"Rafaella Karen Sousa","family":"Monterlei","sequence":"additional","affiliation":[{"name":"Pediatric's Department University of S\u00e3o Paulo (USP\u2010SP)  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7077-9804","authenticated-orcid":false,"given":"Adriana Maria Alves","family":"de Tommaso","sequence":"additional","affiliation":[{"name":"Pediatric's Department State University of Campinas (UNICAMP)  Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9884-9381","authenticated-orcid":false,"given":"Gabriel","family":"Hessel","sequence":"additional","affiliation":[{"name":"Pediatric's Department State University of Campinas (UNICAMP)  Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1145-2606","authenticated-orcid":false,"given":"Maria \u00c2ngela","family":"Bellomo\u2010Brand\u00e3o","sequence":"additional","affiliation":[{"name":"Pediatric's Department State University of Campinas (UNICAMP)  Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6813-158X","authenticated-orcid":false,"given":"Roberta Vacari","family":"de Alcantara","sequence":"additional","affiliation":[{"name":"Pediatric's Department State University of Campinas (UNICAMP)  Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4410-3611","authenticated-orcid":false,"given":"Maria Julia Rodrigues Teixeira","family":"de Araujo","sequence":"additional","affiliation":[{"name":"Pediatric's Department Albert Sabin Hospital  Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9370-782X","authenticated-orcid":false,"given":"Daniela G\u00f3is","family":"Meneses","sequence":"additional","affiliation":[{"name":"Pediatric's Department Federal University of Sergipe (UFS)  S\u00e3o Crist\u00f3v\u00e3o 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