{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:07:45Z","timestamp":1788584865115,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T00:00:00Z","timestamp":1512950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["EU\u2010FP7\u2010REGPOT\u2010316088"],"award-info":[{"award-number":["EU\u2010FP7\u2010REGPOT\u2010316088"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"Glycogen storage disease (GSD<\/jats:styled-content>) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD<\/jats:styled-content> I using Sanger and next\u2010generation sequencing (NGS<\/jats:styled-content>). We identified 28 GSD<\/jats:styled-content> Ib and 5 GSD Ia patients. In 5 patients, GSD III<\/jats:styled-content>, VI<\/jats:styled-content>, IX<\/jats:styled-content>, cholesteryl\u2010ester storage disease and Shwachman\u2010Diamond syndrome diagnoses were set using NGS<\/jats:styled-content>. Incidences for GSD<\/jats:styled-content> Ia and GSD<\/jats:styled-content> Ib were estimated at 1:172\u2009746 and 1:60\u2009461 live\u2010births, respectively. Two variants were identified in G6PC<\/jats:styled-content><\/jats:italic> gene: c.247C<\/jats:styled-content>>T (p.Arg83Cys<\/jats:styled-content>) and c.518T<\/jats:styled-content>>C (p.Leu173Pro<\/jats:styled-content>). In SLC37A4<\/jats:styled-content><\/jats:italic> gene, 6 variants were detected. Three previously reported variants c.81T<\/jats:styled-content>>A (p.Asn27Lys<\/jats:styled-content>), c.162C<\/jats:styled-content>>A (p.Ser54Arg<\/jats:styled-content>) and c.1042_1043delCT (p.Leu348Valfs<\/jats:styled-content>*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and\/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants: c.248G<\/jats:styled-content>>A (p.Gly83Glu<\/jats:styled-content>), c.404G<\/jats:styled-content>>A (p.Gly135Asp<\/jats:styled-content>) and c.785G<\/jats:styled-content>>A (p.Ser263Glyfs<\/jats:styled-content>*33 or p.Gly262Asp<\/jats:styled-content>). In the cohort, hepatomegaly, hypoglycemia and failure to thrive were the most frequent presenting signs of GSD<\/jats:styled-content> Ia, while hepatomegaly and recurrent bacterial infections were clinical hallmarks of GSD<\/jats:styled-content> Ib. All GSD<\/jats:styled-content> Ib patients developed neutropenia while 20.6% developed inflammatory bowel disease. Our study revealed the highest worldwide incidence of GSD<\/jats:styled-content> Ib. Furthermore, description of 3 novel variants will facilitate medical genetic practice.<\/jats:p>","DOI":"10.1111\/cge.13093","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T13:15:12Z","timestamp":1499433312000},"page":"350-355","source":"Crossref","is-referenced-by-count":25,"title":["Genetic characterization of GSD<\/scp> I in Serbian population revealed unexpectedly high incidence of GSD<\/scp> Ib and 3 novel SLC37A4<\/scp><\/i> variants"],"prefix":"10.1111","volume":"93","author":[{"given":"A.","family":"Skakic","sequence":"first","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Djordjevic","sequence":"additional","affiliation":[{"name":"Metabolic Department Mother and Child Health Care Institute of Serbia \u201cDr Vukan Cupic\u201d Belgrade Serbia"},{"name":"School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sarajlija","sequence":"additional","affiliation":[{"name":"Metabolic Department Mother and Child Health Care Institute of Serbia \u201cDr Vukan Cupic\u201d Belgrade Serbia"},{"name":"School of Medicine University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Tosic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering University of Belgrade Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Kecman","sequence":"additional","affiliation":[{"name":"Metabolic Department Mother and Child Health Care Institute 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