{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T04:21:13Z","timestamp":1769746873086,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T00:00:00Z","timestamp":1601251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis. The aim of this study was to determine specific gene mutations in our cases with GSD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty\u2010eight patients with clinical and laboratory diagnoses of GSD were studied. Thirty\u2010two patients had undergone genetic analysis. In our study, a next\u2010generation sequencing panel was used.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five novel variants of uncertain significance (VUS), which were likely to be pathogenic, were detected in seven patients. Two new pathogenic variations of c.927delT (p.Phe309LeufsTer4) homozygous and c.44C&gt;G (p.Ser15Ter) homozygous in the <jats:italic>G6PC<\/jats:italic> gene were detected in two GSD type Ia patients. In our two non\u2010sibling GSD type III patients, c.1439T&gt;G (p.Leu480Arg) homozygous novel\u2010VUS was detected in the <jats:italic>AGL<\/jats:italic> gene. In our GSD type IV patient, c.1054G&gt;C (p.Asp352His) homozygous novel\u2010VUS was detected in the <jats:italic>GBE1<\/jats:italic> gene. In GSD type VI, two sibling patients had a c.1454A&gt;G (p.Asn485Ser) homozygous novel\u2010VUS change in the <jats:italic>PYGL<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We determined the gene mutations specific to cohorts in our cases with GSD. The novel pathogenic, likely pathogenic, and VUS changes identified will contribute to the relationship between the patients\u2019 clinical and laboratory findings.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.14286","type":"journal-article","created":{"date-parts":[[2020,5,6]],"date-time":"2020-05-06T11:48:38Z","timestamp":1588765718000},"page":"1145-1150","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel variants in Turkish patients with glycogen storage disease"],"prefix":"10.1111","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2036-4082","authenticated-orcid":false,"given":"Nafiye Emel","family":"\u00c7akar","sequence":"first","affiliation":[{"name":"Division of Pediatric Metabolism Okmeydan\u0131 Training and Research Hospital University of Health Sciences \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanuni Sultan S\u00fcleyman Training and Research Hospital University of Health Sciences \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han\u0131m \u015eeyma","family":"Topuz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism Kanuni Sultan S\u00fcleyman Training and Research Hospital University of Health Sciences \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hasan","family":"\u00d6nal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism Kanuni Sultan S\u00fcleyman Training and Research Hospital University of Health Sciences \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,28]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"The Metabolic Bases and Molecular Bases of Inherited Diseases","author":"Chen Y\u2010T","year":"2001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-28785-8_6"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02679988"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3343\/alm.2017.37.3.261"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.1.e10"},{"key":"e_1_2_8_9_1","unstructured":"\u00d6nenli MunganHN.Glikojen depo tan\u0131l\u0131 hastalar\u0131m\u0131zdaki klinik ve laboratuvar bulgular\u0131 ile biyopsi ve enzim tayini sonu\u00e7lar\u0131. Master Thesis Adana 2010."},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2017.11.005"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-014-2354-y"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051281"},{"key":"e_1_2_8_13_1","unstructured":"Y\u0131ld\u0131zEE.Glikojen depo Tip Ia ve III hastalar\u0131n\u0131n kar\u015f\u0131la\u015ft\u0131r\u0131lmas\u0131: 14 y\u0131ll\u0131k deneyim. Master Thesis Istanbul 2005."},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.24"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.100"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.004"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0364-2"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.14286","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.14286","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ped.14286","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.14286","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T04:14:24Z","timestamp":1693800864000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.14286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,28]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1111\/ped.14286"],"URL":"https:\/\/doi.org\/10.1111\/ped.14286","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,28]]},"assertion":[{"value":"2019-11-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}