{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:43:30Z","timestamp":1791852210511,"version":"4.3.4"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T00:00:00Z","timestamp":1461283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T00:00:00Z","timestamp":1461283200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Junior Scientific Masterclass (Graduate School GUIDE, University of Groningen, the Netherlands)"},{"name":"Metakids (the Netherlands)"},{"DOI":"10.13039\/100000002","name":"the National Institutes of Health (NIH)","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000097","name":"National Centre for Research Resources","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the Johnny Damon Foundation"},{"name":"the Hope and Fund for GSDIII Research"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to\n                    <jats:italic>AGL<\/jats:italic>\n                    gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac\/skeletal muscle, whereas GSDIIIb patients display only liver symptoms and signs. The International Study on Glycogen Storage Disease (ISGSDIII) is a descriptive retrospective, international, multi\u2010centre cohort study of diagnosis, genotype, management, clinical course and outcome of 175 patients from 147 families (86 % GSDIIIa; 14 % GSDIIIb), with follow\u2010up into adulthood in 91 patients. In total 58\n                    <jats:italic>AGL<\/jats:italic>\n                    mutations (non\u2010missense mutations were overrepresented and 21 novel mutations were observed) were identified in 76 families. GSDIII patients first presented before the age of 1.5 years, hepatomegaly was the most common presenting clinical sign. Dietary management was very diverse and included frequent meals, uncooked cornstarch and continuous gastric drip feeding. Chronic complications involved the liver (hepatic cirrhosis, adenoma(s), and\/or hepatocellular carcinoma in 11 %), heart (cardiac involvement and cardiomyopathy, in 58 % and 15 %, respectively, generally presenting in early childhood), and muscle (pain in 34 %). Type 2 diabetes mellitus was diagnosed in eight out of 91 adult patients (9 %). In adult patients no significant correlation was detected between (non\u2010) missense\n                    <jats:italic>AGL<\/jats:italic>\n                    genotypes and hepatic, cardiac or muscular complications. This study demonstrates heterogeneity in a large cohort of ageing GSDIII patients. An international GSD patient registry is warranted to prospectively define the clinical course, heterogeneity and the effect of different dietary interventions in patients with GSDIII.\n                  <\/jats:p>","DOI":"10.1007\/s10545-016-9932-2","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T06:54:31Z","timestamp":1461308071000},"page":"697-704","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":160,"title":["Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome"],"prefix":"10.1002","volume":"39","author":[{"given":"Christiaan P.","family":"Sentner","sequence":"first","affiliation":[{"name":"Section of Metabolic Diseases, Beatrix Children's Hospital University of Groningen, University Medical Center Groningen PO Box 30 001 Groningen 9700 RB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene J.","family":"Hoogeveen","sequence":"additional","affiliation":[{"name":"Section of Metabolic Diseases, Beatrix Children's Hospital University of Groningen, University Medical Center Groningen PO Box 30 001 Groningen 9700 RB The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Glycogen Storage Disease Program University of Florida Gainesville FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University Medical Centre Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick J.","family":"McKiernan","sequence":"additional","affiliation":[{"name":"Birmingham Children's Hospital Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Steuerwald","sequence":"additional","affiliation":[{"name":"Department of Occupational and Public Health (DFAA) T\u00f3rshavn Faroe Islands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Beauchamp","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Taybert","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases Children's Memorial Health Institute Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence de Pathologie, Neuromusculaire Paris\u2010Est, Institut de Myologie, GH Piti\u00e9\u2010Salp\u00eatri\u00e8re Assistance Publique\u2010H\u00f4pitaux de Paris Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois M.","family":"Petit","sequence":"additional","affiliation":[{"name":"Department of Genetics and Cytogenetics, AP\u2010HP Antoine B\u00e9cl\u00e8re University Hospital, University Paris Sud Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Hubert","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pitaux Universitaires Paris Sud, h\u00f4pital Antoine B\u00e9cl\u00e8re, Centre de R\u00e9f\u00e9rence des Maladies h\u00e9r\u00e9ditaires du M\u00e9tabolisme H\u00e9patique, and Paris Sud University Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pitaux Universitaires Paris Sud, h\u00f4pital Antoine B\u00e9cl\u00e8re, Centre de R\u00e9f\u00e9rence des Maladies h\u00e9r\u00e9ditaires du M\u00e9tabolisme H\u00e9patique, and Paris Sud University Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. 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