{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:34:14Z","timestamp":1740126854453,"version":"3.37.3"},"reference-count":52,"publisher":"Georg Thieme Verlag KG","issue":"02","funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","award":["NRF2021R1F1A104593011"],"award-info":[{"award-number":["NRF2021R1F1A104593011"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Exp Clin Endocrinol Diabetes"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with a hepatic type of glycogen storage diseases (GSDs)\n                        can manifest endocrine features such as hypoglycemia, dyslipidemia, or\n                        osteoporosis. This study aimed to investigate the long-term endocrine\n                        consequences in patients with hepatic GSDs.<\/jats:p><jats:p>This study included 64 patients from 52 families with hepatic GSDs\n                        including GSD type Ia (41 patients from 37 families), Ib (3 unrelated), III (8\n                        from 6 families), IV (1 patient), and IX (11 from 5 families). All patients were\n                        genetically confirmed. Clinical and endocrine findings were retrospectively\n                        analyzed.<\/jats:p><jats:p>The median age at diagnosis and current age were 2.4 years (range,\n                        0.1\u221242.4 years) and 17.6 years (range, 1.0\u221247.8 years), respectively. The mean\n                        height SDS at diagnosis was \u20133.5\u00b11.4, and short stature was observed in 35.6% of\n                        patients. Patients diagnosed after the age of 3.4 years exhibited a high risk of\n                        short stature (OR=36.1; P-value&lt;0.001). Among 33 patients who reached the\n                        final height, 23 (69.7%) showed delayed puberty. Hypertriglyceridemia was\n                        observed in 46 patients (71.9%), whereas 25 patients (39%) had elevated\n                        low-density lipoprotein cholesterol levels during the follow-up period. Among 24\n                        patients who underwent dual-energy X-ray absorptiometry, 22 showed a low bone\n                        mineral density Z-score of \u20133.0\u00b11.3 at the L-spine.<\/jats:p><jats:p>This study described the long-term endocrine consequences in\n                        patients with hepatic GSDs. Pediatric endocrinologists should be aware of the\n                        presenting features and long-term endocrine sequelae of GSDs to provide proper\n                        management and decrease its morbidities.<\/jats:p>","DOI":"10.1055\/a-2444-4320","type":"journal-article","created":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T23:04:48Z","timestamp":1729206288000},"page":"83-91","source":"Crossref","is-referenced-by-count":0,"title":["Endocrine Complications in Hepatic Glycogen Storage Diseases: A\n                    Long-term Perspective"],"prefix":"10.1055","volume":"133","author":[{"given":"Ja Hye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yena","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hallym University Sacred Heart Hospital,\n                    Hallym University College of Medicine, Anyang, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soojin","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dohyung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beom Hee","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"},{"name":"Medical Genetics Center, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1196-7826","authenticated-orcid":false,"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asan Medical Center,\n                    University of Ulsan College of Medicine, Seoul, Korea (the Republic\n                    of)"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,1,13]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1186\/s13023-022-02387-6","article-title":"Glycogen storage diseases with liver involvement: A literature review of GSD\n                    type 0, IV, VI, IX and XI","volume":"17","author":"M Massese","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.3389\/fnins.2019.01176","article-title":"The role of brain glycogen in supporting physiological function","volume":"13","author":"L R Rich","year":"2019","journal-title":"Front Neurosci"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1186\/s13023-020-01573-8","article-title":"Diagnosis of hepatic glycogen storage disease patients with overlapping clinical\n                    symptoms by massively parallel sequencing: A systematic review of\n                    literature","volume":"15","author":"Z Beyzaei","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref4","first-page":"240","article-title":"Investigation and management of the hepatic glycogen storage diseases","volume":"4","author":"K Bhattacharya","year":"2015","journal-title":"Transl Pediatr"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/jhg.2013.17","article-title":"Current status of hepatic glycogen storage disease in Japan: Clinical\n                    manifestations, treatments and long-term outcomes","volume":"58","author":"J Kido","year":"2013","journal-title":"J Hum Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1007\/BF02679990","article-title":"Glycogen storage disease type I: Diagnosis, management, clinical course and\n                    outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD\n                    I)","volume":"161","author":"J Rake","year":"2002","journal-title":"Eur J Pediatr"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"e1444","DOI":"10.1002\/mgg3.1444","article-title":"Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen\n                    storage diseases","volume":"8","author":"Y Liang","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.bone.2016.02.012","article-title":"Reduced bone mineral density in glycogen storage disease type III: Evidence for\n                    a possible connection between metabolic imbalance and bone homeostasis","volume":"86","author":"D Melis","year":"2016","journal-title":"Bone"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"3803","DOI":"10.4049\/jimmunol.1601946","article-title":"Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is\n                    associated with a reduced engagement of glycolysis in T cells and an impaired\n                    regulatory T cell function","volume":"198","author":"D Melis","year":"2017","journal-title":"J Immun"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1038\/gim.2014.128","article-title":"Diagnosis and management of glycogen storage disease type I: A practice\n                    guideline of the American College of Medical Genetics and Genomics","volume":"16","author":"P S Kishnani","year":"2014","journal-title":"Genet Med"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13023-020-1321-0","article-title":"Predominance of the c.648G > T G6PC gene mutation and late complications in\n                    Korean patients with glycogen storage disease type Ia","volume":"15","author":"Y M Kim","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/8904_2016_38","article-title":"Hypogonadotropic hypogonadism in males with glycogen storage disease type 1","volume":"36","author":"E M Wong","year":"2017","journal-title":"JIMD Reports"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1007\/s10545-008-0919-5","article-title":"Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic\n                    control","volume":"31","author":"A V Bernier","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s10545-012-9490-1","article-title":"Fertility and pregnancy in women affected by glycogen storage disease type I,\n                    results of a multicenter Italian study","volume":"36","author":"A Sechi","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3345\/kjp.2018.61.5.135","article-title":"The 2017 Korean national growth charts for children and adolescents:\n                    Development, improvement, and prospects","volume":"61","author":"J H Kim","year":"2018","journal-title":"Korean J Pediatr"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"57","DOI":"10.6065\/apem.2018.23.2.57","article-title":"Delayed puberty versus hypogonadism: A challenge for the pediatrician","volume":"23","author":"M Bozzola","year":"2018","journal-title":"Ann Pediatr Endocrinol Metab"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.clinbiochem.2011.10.003","article-title":"Reference values for serum levels of insulin-like growth factor-I and\n                    insulin-like growth factor binding protein-3 in Korean children and\n                    adolescents","volume":"45","author":"S E Hyun","year":"2012","journal-title":"Clin Biochem"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"454","DOI":"10.3345\/cep.2020.01340","article-title":"2017 Clinical practice guidelines for dyslipidemia of Korean children and\n                    adolescents","volume":"63","author":"J S Lim","year":"2020","journal-title":"Clin Exp Pediatr"},{"key":"ref19","first-page":"e1082","article-title":"2018 AHA\/ACC\/AACVPR\/AAPA\/ABC\/ACPM\/ADA\/AGS\/APhA\/ASPC\/NLA\/PCNA Guideline on the\n                    management of blood cholesterol: A report of the American College of\n                    Cardiology\/American Heart Association task force on clinical practice\n                    guidelines","volume":"139","author":"S M Grundy","year":"2019","journal-title":"Circulation"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.dsx.2020.01.007","article-title":"Management of asymptomatic hyperuricemia: Integrated Diabetes & Endocrine\n                    Academy (IDEA) consensus statement","volume":"14","author":"R Valsaraj","year":"2020","journal-title":"Diabetes Metab Syndr"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0022-3476(96)70322-0","article-title":"Abnormal serum uric acid levels in children","volume":"128","author":"W D Wilcox","year":"1996","journal-title":"J Pediatr"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.jocd.2009.09.006","article-title":"Bone mineral density according to age, bone age, and pubertal stages in Korean\n                    children and adolescents","volume":"13","author":"J S Lim","year":"2010","journal-title":"J Clin Densitom"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s00774-015-0686-y","article-title":"Body composition and bone density reference data for Korean children,\n                    adolescents, and young adults according to age and sex: Results of the 2009\u20132010\n                    Korean National Health and Nutrition Examination Survey (KNHANES)","volume":"34","author":"M J Kang","year":"2016","journal-title":"J Bone Metab"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.jocd.2014.01.004","article-title":"Fracture prediction and the definition of osteoporosis in children and\n                    adolescents: The ISCD 2013 Pediatric Official Positions","volume":"17","author":"N Bishop","year":"2014","journal-title":"J Clin Densitom"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1210\/clinem\/dgac609","article-title":"Serum IGF-1 to IGFBP-3 molar ratio: A promising diagnostic tool for growth\n                    hormone deficiency in children","volume":"108","author":"L M Haj-Ahmad","year":"2023","journal-title":"J Clin Endocrinol Metab"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ymgme.2013.03.018","article-title":"Pathogenesis of growth failure and partial reversal with gene therapy in murine\n                    and canine Glycogen Storage Disease type Ia","volume":"109","author":"E D Brooks","year":"2013","journal-title":"Mol Genet Metab"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.jpeds.2009.10.032","article-title":"The growth hormone-insulin-like growth factor axis in glycogen storage disease\n                    type 1: Evidence of different growth patterns and insulin-like growth factor\n                    levels in patients with glycogen storage disease type 1a and 1b","volume":"156","author":"D Melis","year":"2010","journal-title":"J Pediatr"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1046\/j.1365-2265.2003.01717.x","article-title":"The regulation of growth in glycogen storage disease type 1","volume":"58","author":"H R Mundy","year":"2003","journal-title":"Clin Endocrinol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"E304","DOI":"10.1210\/jc.2012-3290","article-title":"Insulin-like growth factor-I, inflammatory proteins, and fibrosis in subjects\n                    with nonalcoholic fatty liver disease","volume":"98","author":"M L Hribal","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/S0889-8529(05)70344-3","article-title":"Insulin as a growth factor","volume":"25","author":"R K Menon","year":"1996","journal-title":"Endocrinol Metab Clin North Am"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1203\/00006450-199305001-00063","article-title":"Polycystic ovaries and glucose tolerance in hepatic glycogen storage\n                    disease","volume":"33","author":"P I Lee","year":"1993","journal-title":"Pediatr Res"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/pedi.12540","article-title":"Prevention of complications in glycogen storage disease type Ia with\n                    optimization of metabolic control","volume":"18","author":"M Dambska","year":"2017","journal-title":"Pediatr Diabetes"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1007\/s40618-022-01753-2","article-title":"Serum sex hormone-binding globulin levels are reduced and inversely associated\n                    with intrahepatic lipid content and saturated fatty acid fraction in adult\n                    patients with glycogen storage disease type 1a","volume":"45","author":"Valkenburg O Simons PIHG","year":"2022","journal-title":"J Endocrinol Invest"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1111\/j.1365-2265.1995.tb02686.x","article-title":"The prevalence of polycystic ovaries in the hepatic glycogen storage diseases:\n                    Its association with hyperinsulinism","volume":"42","author":"P J Lee","year":"1995","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"R131","DOI":"10.1530\/JOE-18-0120","article-title":"Biochemical and clinical aspects of glycogen storage diseases","volume":"238","author":"S S Ellingwood","year":"2018","journal-title":"J Endocrinol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1016\/j.clinthera.2021.08.005","article-title":"Efficacy and safety of fenofibrate-statin combination therapy in patients with\n                    inadequately controlled triglyceride levels despite previous statin monotherapy:\n                    A multicenter, randomized, double-blind, phase IV study","volume":"43","author":"M S Park","year":"2021","journal-title":"Clin Ther"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1016\/j.amjcard.2006.11.016","article-title":"Safety considerations with fibrate therapy","volume":"99","author":"M H Davidson","year":"2007","journal-title":"Am J Card"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1161\/01.CIR.0000068312.21969.C8","article-title":"Effect of ezetimibe coadministered with atorvastatin in 628 patients with\n                    primary hypercholesterolemia","volume":"107","author":"C M Ballantyne","year":"2003","journal-title":"Circulation"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1177\/2040622316672544","article-title":"Ezetimibe: An update on its clinical usefulness in specific patient groups","volume":"8","author":"D Hammersley","year":"2017","journal-title":"Ther Adv Chronic Dis"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1586\/14779072.6.4.447","article-title":"Ezetimibe: cholesterol lowering and beyond","volume":"6","author":"H E Bays","year":"2008","journal-title":"Expert Rev Cardiovasc Ther"},{"key":"ref41","first-page":"F442","article-title":"Acidosis inhibits osteoblastic and stimulates osteoclastic activity in\n                    vitro","volume":"262","author":"N S Krieger","year":"1992","journal-title":"Am J Physiol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1038\/gim.2012.36","article-title":"Bone mineral density in glycogen storage disease type Ia and Ib","volume":"14","author":"L A Minarich","year":"2013","journal-title":"Genet Med"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"2987","DOI":"10.3390\/nu13092987","article-title":"Bone mineral density in patients with hepatic glycogen storage diseases","volume":"13","author":"J T Jacoby","year":"2021","journal-title":"Nutrients"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ebiom.2019.07.067","article-title":"Glucose and glycogen in the diabetic kidney: Heroes or villains?","volume":"47","author":"M A Sullivan","year":"2019","journal-title":"EBioMedicine"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/j.jpeds.2014.12.015","article-title":"Progression of renal damage in glycogen storage disease type I is associated to\n                    hyperlipidemia: A multicenter prospective Italian study","volume":"166","author":"D Melis","year":"2015","journal-title":"J Pediatr"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/j.1365-2265.2005.02292.x","article-title":"Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease\n                    type 1: A multicentre retrospective study","volume":"63","author":"D Melis","year":"2005","journal-title":"Clin Endocrinol"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"S46","DOI":"10.1007\/BF02679993","article-title":"Glycogen storage disease type I: Pathophysiology of liver adenomas","volume":"161","author":"P Lee","year":"2002","journal-title":"Eur J Pediatr"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/8904_2014_344","article-title":"Regression of hepatocellular adenomas with strict dietary therapy in patients\n                    with glycogen storage disease type I","volume":"18","author":"R D Beegle","year":"2015","journal-title":"JIMD Reports"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/pedi.12540","article-title":"Prevention of complications in glycogen storage disease type Ia with\n                    optimization of metabolic control","volume":"18","author":"M Dambska","year":"2017","journal-title":"Pediatr Diabetes"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1073\/pnas.1816143116","article-title":"Failure to eliminate a phosphorylated glucose analog leads to neutropenia in\n                    patients with G6PT and G6PC3 deficiency","volume":"116","author":"M Veiga-da-Cunha","year":"2019","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1016\/j.lfs.2004.10.016","article-title":"SLC5A9\/SGLT4, a new Na+-dependent glucose transporter, is an essential\n                    transporter for mannose, 1,5-anhydro-D-glucitol, and fructose","volume":"76","author":"S Tazawa","year":"2005","journal-title":"Life Sci"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"1145111","DOI":"10.3389\/fendo.2023.1145111","article-title":"Current understanding on pathogenesis and effective treatment of glycogen\n                    storage disease type Ib with empagliflozin: New insights coming from diabetes\n                    for its potential implications in other metabolic disorders","volume":"14","author":"A Maiorana","year":"2023","journal-title":"Front Endocrinol"}],"container-title":["Experimental and Clinical Endocrinology &amp; Diabetes"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2444-4320.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,8]],"date-time":"2025-02-08T01:25:46Z","timestamp":1738977946000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2444-4320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,17]]},"references-count":52,"journal-issue":{"issue":"02","published-online":{"date-parts":[[2025,2,7]]},"published-print":{"date-parts":[[2025,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2444-4320","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0947-7349","1439-3646"],"issn-type":[{"type":"print","value":"0947-7349"},{"type":"electronic","value":"1439-3646"}],"subject":[],"published-other":{"date-parts":[[2024,10,17]]},"published":{"date-parts":[[2024,10,17]]}}}