{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:07:41Z","timestamp":1788584861521,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,4,21]],"date-time":"2008-04-21T00:00:00Z","timestamp":1208736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the <jats:italic>G6PT<\/jats:italic> gene, encoding a glucose 6\u2010phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn\u2010like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25\u2010year\u2010old patient affected by GSD Ib who developed \u2018seronegative\u2019 myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti\u2010acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.<\/jats:p>","DOI":"10.1007\/s10545-008-0810-4","type":"journal-article","created":{"date-parts":[[2008,4,23]],"date-time":"2008-04-23T12:46:07Z","timestamp":1208954767000},"page":"227-231","source":"Crossref","is-referenced-by-count":13,"title":["Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?"],"prefix":"10.1002","volume":"31","author":[{"given":"D.","family":"Melis","sequence":"first","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Balivo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Della Casa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Romano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Taurisano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Capaldo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine \u2018Federico II\u2019 University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Riccardi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine \u2018Federico II\u2019 University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Monsurr\u00f2","sequence":"additional","affiliation":[{"name":"Department of Neurology Second University of Naples Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Parenti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Andria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2018Federico II\u2019 University Via Sergio Pansini, 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,21]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880171208"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.2.376"},{"key":"e_1_2_4_4_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen YT","year":"2001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605798"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI29894"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02680002"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(96)00009-0"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00042737-200306000-00007"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0035-3787(04)70886-3"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.1.16"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M604964200"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-08-2576"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1107-1341"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2567.1999.00806.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2003.tb00825.x"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.11.056"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2005.046300"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.iy.12.040194.001303"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.177.8.5296"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/08959374960100011101"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.105232"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0810-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:23:28Z","timestamp":1694751808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0810-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,21]]},"references-count":21,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0810-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0810-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,21]]}}}