{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T04:23:29Z","timestamp":1792383809161,"version":"4.4.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,3,28]]},"abstract":"Abstract<\/jats:title>\n \n Background:<\/jats:title>\n Glycogen storage diseases (GSDs) are a collection of disorders related to glycogen synthesis or degradation that classically present in infancy with hypoglycemia, failure to thrive and hepatomegaly; however, their phenotype can vary significantly.<\/jats:p>\n <\/jats:sec>\n \n Case presentation:<\/jats:title>\n We present the cases of two children, 5 years old and 3.5 years old, who were referred to endocrinology for short stature. They were ultimately found to have hepatomegaly, fasting hypoglycemia, mild elevation of transaminases and ketosis. Laboratory and genetic studies were consistent with double heterozygosity for GSDs Ia and III, with one novel mutation discovered in each patient. Nightly, both children were treated with cornstarch, which resulted in resolution of laboratory abnormalities and improvement in their growth velocity. These cases are unusual in that GSD was diagnosed relatively late in life in patients with no previous history of severe hypoglycemia.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n They highlight the importance of considering glycogen storage disease in a child presenting with short stature, as it is a treatable disease that can be diagnosed non-invasively with genetic testing.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2017-0209","type":"journal-article","created":{"date-parts":[[2018,1,28]],"date-time":"2018-01-28T10:02:20Z","timestamp":1517133740000},"page":"473-478","source":"Crossref","is-referenced-by-count":7,"title":["Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly"],"prefix":"10.1515","volume":"31","author":[{"given":"David","family":"Quackenbush","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Naval Medical Center Portsmouth , Portsmouth, VA , USA"},{"name":"Department of Pediatrics , Uniformed Services University of the Health Sciences , Bethesda, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Devito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Naval Medical Center Portsmouth , Portsmouth, VA , USA"},{"name":"Department of Pediatrics , Uniformed Services University of the Health Sciences , Bethesda, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Garibaldi","sequence":"additional","affiliation":[{"name":"Dapartment of Endocrinology, Division of Pediatric Endocrinology , Children\u2019s Hospital of Pittsburgh of UPMC , Pittsburgh, PA , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Buryk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Naval Medical Center Portsmouth , Portsmouth, VA , USA"},{"name":"Department of Pediatrics , Uniformed Services University of the Health Sciences , Bethesda, MD , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,1,29]]},"reference":[{"key":"2021021322311425855_j_jpem-2017-0209_ref_001_w2aab3b7b8b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, 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:e1.","DOI":"10.1038\/gim.2014.128"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_002_w2aab3b7b8b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Chou JY, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat 2008;29:921\u201330.","DOI":"10.1002\/humu.20772"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_003_w2aab3b7b8b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010;12:446\u201363.","DOI":"10.1097\/GIM.0b013e3181e655b6"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_004_w2aab3b7b8b1b6b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European study on glycogen storage disease type I (ESGSD I). Eur J Pediat 2002;161(Suppl 1):S20\u201334.","DOI":"10.1007\/BF02679990"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_005_w2aab3b7b8b1b6b1ab2b1b5Aa","doi-asserted-by":"crossref","unstructured":"Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, et al. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metabo Dis 2016;39:697\u2013704.","DOI":"10.1007\/s10545-016-9932-2"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_006_w2aab3b7b8b1b6b1ab2b1b6Aa","unstructured":"Dagli G, Sentner C, Weinstein D. Glycogen storage disease type III. In: Pagon R, Adam M, Ardinger H, et al., editors. Gene reviews. Seattle: University of Washington, 2016. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK26372\/."},{"key":"2021021322311425855_j_jpem-2017-0209_ref_007_w2aab3b7b8b1b6b1ab2b1b7Aa","doi-asserted-by":"crossref","unstructured":"Liu PP, de Villa VH, Chen YS, Wang CC, Wang SH, et al. Outcome of living donor liver transplantation for glycogen storage disease. Transplant Proc 2003;35:366\u20138.","DOI":"10.1016\/S0041-1345(02)03951-9"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_008_w2aab3b7b8b1b6b1ab2b1b8Aa","doi-asserted-by":"crossref","unstructured":"Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: diagnosis and phenotype\/genotype correlation. Eur J Pediatr 2002;161(Suppl 1):S10\u20139.","DOI":"10.1007\/BF02679989"},{"key":"2021021322311425855_j_jpem-2017-0209_ref_009_w2aab3b7b8b1b6b1ab2b1b9Aa","doi-asserted-by":"crossref","unstructured":"Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, et al. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with glycogen storage disease type III. Genet Med 2010;12:424\u201330.","DOI":"10.1097\/GIM.0b013e3181d94eaa"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2018.31.issue-4\/jpem-2017-0209\/jpem-2017-0209.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0209\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0209\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:42:50Z","timestamp":1619055770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2017-0209\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,29]]},"references-count":9,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2018,1,29]]},"published-print":{"date-parts":[[2018,3,28]]}},"alternative-id":["10.1515\/jpem-2017-0209"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2017-0209","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,1,29]]}}}