{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:15:45Z","timestamp":1790741745603,"version":"4.1.0"},"reference-count":74,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well\u2010recognized diseases that can occur without the full spectrum, and with overlapping in symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed a cohort of 125 patients with suspected hepatic GSD through a next\u2010generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (<jats:italic>n<\/jats:italic>\u00a0=\u00a053), followed by Ib (<jats:italic>n<\/jats:italic>\u00a0=\u00a023). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in <jats:italic>G6PC<\/jats:italic> gene, and p.Leu348Valfs (21 alleles) in <jats:italic>SLC37A4<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.877","type":"journal-article","created":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T10:09:52Z","timestamp":1568196592000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Glycogen storage diseases: Twenty\u2010seven new variants in a cohort of 125 patients"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2460-7064","authenticated-orcid":false,"given":"Fernanda","family":"Sperb-Ludwig","sequence":"first","affiliation":[{"name":"Post\u2010Graduation Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN) Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franciele Cabral","family":"Pinheiro","sequence":"additional","affiliation":[{"name":"Post\u2010Graduation Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN) Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malu","family":"Bettio Soares","sequence":"additional","affiliation":[{"name":"Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN) Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiele","family":"Nalin","sequence":"additional","affiliation":[{"name":"Post\u2010Graduation Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Hospital Infantil Albert Sabin Fortaleza Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Eduardo","family":"Steiner","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas Campinas Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eug\u00eania","family":"Ribeiro Valadares","sequence":"additional","affiliation":[{"name":"Departamento de Proped\u00eautica Complementar Faculdade de Medicina da Universidade Federal de Minas Gerais Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilda","family":"Porta","sequence":"additional","affiliation":[{"name":"Hospital Infantil Menino Jesus S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Fishinger Moura de Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida Vanessa Doederlein","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Post\u2010Graduation Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN) Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083115-022331"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y"},{"key":"e_1_2_7_5_1","unstructured":"Bali D. 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