{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:34:06Z","timestamp":1777329246305,"version":"3.51.4"},"reference-count":7,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Glycogen storage disease type Ia (GSD1A) is caused by mutations in the\n                    <jats:italic>G6PC<\/jats:italic>\n                    gene. The\n                    <jats:italic>G6PC<\/jats:italic>\n                    gene was first cloned in 1993. Since then, many different mutations have been identified leading to this disease. Hepatomegaly is one of the important clinical manifestations of the disease. A 23-day-old girl was admitted to the hospital due to respiratory distress. Her physical examination was normal except for tachypnea. She had hypoglycemia, lactic academia, hyperlipidemia and hyperuricemia. With these clinical findings, GSD1A was considered in the patient and the diagnosis was genetically confirmed. By direct sequencing of the\n                    <jats:italic>G6PC<\/jats:italic>\n                    gene, we identified a novel homozygous variation (c.137T&gt;G\/p.Leu46Arg) in the patient and the healthy mother and father were heterozygotes for the variant. Here we present a case with a novel homozygous missense mutation c.137T&gt;G\/p.Leu46Arg in the\n                    <jats:italic>G6PC<\/jats:italic>\n                    gene leading to GSD1A clinical findings except early hepatomegaly. These findings expand the spectrum of causative mutations, and clinical findings in GSD1A.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2018-0018","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T13:30:58Z","timestamp":1554125458000},"page":"55-57","source":"Crossref","is-referenced-by-count":0,"title":["A novel mutation in a newborn baby leading to glycogen storage disease type Ia"],"prefix":"10.2478","volume":"21","author":[{"given":"S","family":"Dorum","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Gorukmez","sequence":"additional","affiliation":[{"name":"Department of Genetics, Bursa Yuksek Ihtisas Training and Research Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,12,31]]},"reference":[{"key":"2026042716342527590_j_bjmg-2018-0018_ref_001_w2aab2b8b1b1b7b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al. Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014; 16(11): e1.","DOI":"10.1038\/gim.2014.128"},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_002_w2aab2b8b1b1b7b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Dambska M, Labrador EB, Kuo CL, Weinstein DA. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 2017; 18(5): 327-331.","DOI":"10.1111\/pedi.12540"},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_003_w2aab2b8b1b1b7b1ab2b1b3Aa","unstructured":"Sun A. Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease). Hahn S, Editor. Waltham, MA, USA: UpToDate Inc. (https:\/\/www.upto date.com accessed February 16, 2018."},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_004_w2aab2b8b1b1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Aydemir Y, Gurakan F, Saltik Temizel IN, Demir H, Karli Oguz K, et al. Evaluation of central nervous system in patients with glycogen storage disease type 1a. Turkish J Pediatr. 2016; 58(1): 12-18.","DOI":"10.24953\/turkjped.2016.01.002"},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_005_w2aab2b8b1b1b7b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Hufton BR, Wharton BA. Glycogen storage disease (type 1) presenting in the neonatal period. Arch Dis Child. 1982; 57(4): 309-319.","DOI":"10.1136\/adc.57.4.309"},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_006_w2aab2b8b1b1b7b1ab2b1b6Aa","doi-asserted-by":"crossref","unstructured":"Emino\u011flu FT, T\u00fcmer L, Okur I, Ezg\u00fc FS, Hasano\u011flu A. Clinical course and outcome of glycogen-storage disease type 1a and type 1b. Turk Arch Ped. 2013; 48(2): 117-122.","DOI":"10.4274\/tpa.185"},{"key":"2026042716342527590_j_bjmg-2018-0018_ref_007_w2aab2b8b1b1b7b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GPK. Guidelines for management of glycogen storage disease type I \u2013 European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002; 161(Suppl 1): 112-119.","DOI":"10.1007\/BF02680007"}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/content.sciendo.com\/view\/journals\/bjmg\/21\/2\/article-p55.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2018-0018","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:42:18Z","timestamp":1777326138000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2018-0018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,1]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,12,31]]},"published-print":{"date-parts":[[2018,12,31]]}},"alternative-id":["10.2478\/bjmg-2018-0018"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2018-0018","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,1]]}}}