{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,3]],"date-time":"2024-07-03T05:56:46Z","timestamp":1719986206518},"reference-count":46,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6\u20139 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (K<\/jats:p>","DOI":"10.1515\/jpem-2016-0149","type":"journal-article","created":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T10:02:31Z","timestamp":1479290551000},"source":"Crossref","is-referenced-by-count":2,"title":["Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation"],"prefix":"10.1515","volume":"29","author":[{"given":"Elif","family":"Ozsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Giri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulcan","family":"Seymen Karabulut","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref361","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.2040-1124.2011.00106.x","article-title":"Genetics and pathophysiology of neonatal diabetes mellitus","volume":"2","year":"2011","journal-title":"J Diabetes Investig"},{"key":"ref401","first-page":"1089","article-title":"Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings","volume":"29","year":"2016","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref21","first-page":"877","article-title":"Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds","volume":"28","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref01","first-page":"193","article-title":"Neonatal diabetesmellitus-genetic aspects","volume":"2","year":"2004","journal-title":"Pediatr Endocrinol Rev"},{"key":"ref461","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/ncpneuro0640","article-title":"Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11","volume":"3","year":"2007","journal-title":"Nat Clin Pract Neurol"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1464-5491.2007.02373.x","article-title":"Sulfonylurea therapy improves cognition in a patient with V59M KCNJ11 mutation","volume":"25","year":"2008","journal-title":"Diabet Med"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1007\/s12098-014-1486-4","article-title":"Neonatal diabetes with intractable epilepsy: DEND syndrome","volume":"81","year":"2014","journal-title":"Indian J Pediatr"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s00125-010-1981-8","article-title":"Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation","volume":"54","year":"2011","journal-title":"Diabetologia"},{"key":"ref261","first-page":"877","article-title":"Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds","volume":"28","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref431","first-page":"143","article-title":"DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas","volume":"26","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/j.1399-5448.2008.00433.x","article-title":"Diagnosis and treatment of neonatal diabetes: a United States experience","volume":"9","year":"2008","journal-title":"Pediatr Diabetes"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1212\/01.wnl.0000268488.51776.53","article-title":"A novel mutation causing DEND syndrome; a treatable channelopathy of pancreas and brain","volume":"69","year":"2007","journal-title":"Neurology"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1212\/01.wnl.0000268488.51776.53","article-title":"A novel mutation causing DEND syndrome; a treatable channelopathy of pancreas and brain","volume":"69","year":"2007","journal-title":"Neurology"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1056\/NEJMoa061759","article-title":"Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations","volume":"355","year":"2006","journal-title":"N Engl J Med"},{"key":"ref151","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","year":"2008"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1111\/j.1365-2265.2008.03478.x","article-title":"Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype","volume":"71","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref301","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2337\/dc07-1785","article-title":"Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations","volume":"31","year":"2008","journal-title":"Diab Care"},{"key":"ref451","first-page":"763","article-title":"AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child","volume":"24","year":"2011","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref191","first-page":"143","article-title":"DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas","volume":"26","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref441","doi-asserted-by":"crossref","first-page":"e18","DOI":"10.1016\/j.diabres.2014.12.010","article-title":"Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation","volume":"108","year":"2015","journal-title":"Diabetes Res Clin Pract"},{"key":"ref131","first-page":"389","article-title":"Genetic disorders of the pancreatic beta cell and diabetes (permanent neonatal diabetes and maturity-onset diabetes of the young)","year":"2008","journal-title":"Pancreatic Beta Cell in Health and Disease. Springer, Japan"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/ncpneuro0640","article-title":"Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11","volume":"3","year":"2007","journal-title":"Nat Clin Pract Neurol"},{"key":"ref371","first-page":"389","article-title":"Genetic disorders of the pancreatic beta cell and diabetes (permanent neonatal diabetes and maturity-onset diabetes of the young)","year":"2008","journal-title":"Pancreatic Beta Cell in Health and Disease. Springer, Japan"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"17539","DOI":"10.1073\/pnas.0404756101","article-title":"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features","volume":"101","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s00125-010-1981-8","article-title":"Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation","volume":"54","year":"2011","journal-title":"Diabetologia"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes","volume":"49","year":"2000","journal-title":"Diabetes"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1007\/s12098-014-1486-4","article-title":"Neonatal diabetes with intractable epilepsy: DEND syndrome","volume":"81","year":"2014","journal-title":"Indian J Pediatr"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes mellitus: widening our understanding of the aetiopathogenesis of diabetes","volume":"49","year":"2000","journal-title":"Diabetes"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1111\/j.1365-2265.2008.03478.x","article-title":"Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype","volume":"71","year":"2009","journal-title":"Clin Endocrinol (Oxf)"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"e18","DOI":"10.1016\/j.diabres.2014.12.010","article-title":"Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation","volume":"108","year":"2015","journal-title":"Diabetes Res Clin Pract"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1056\/NEJMoa055068","article-title":"Activating mutations in the ABCC8 gene in neonatal diabetes mellitus","volume":"355","year":"2006","journal-title":"N Engl J Med"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2337\/dc07-1785","article-title":"Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations","volume":"31","year":"2008","journal-title":"Diab Care"},{"key":"ref211","first-page":"763","article-title":"AV59M KCNJ11 gene mutation leading to intermediate DEND syndrome in a Chinese child","volume":"24","year":"2011","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref241","first-page":"193","article-title":"Neonatal diabetesmellitus-genetic aspects","volume":"2","year":"2004","journal-title":"Pediatr Endocrinol Rev"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1038\/aps.2011.57","article-title":"Current understanding of KATP channels in neonatal diseases: focus on insulin secretion disorders","volume":"32","year":"2011","journal-title":"Acta Pharmacol Sin"},{"key":"ref321","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1464-5491.2007.02373.x","article-title":"Sulfonylurea therapy improves cognition in a patient with V59M KCNJ11 mutation","volume":"25","year":"2008","journal-title":"Diabet Med"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.2337\/dc12-2166","article-title":"Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion","volume":"36","year":"2013","journal-title":"Diab Care"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1038\/aps.2011.57","article-title":"Current understanding of KATP channels in neonatal diseases: focus on insulin secretion disorders","volume":"32","year":"2011","journal-title":"Acta Pharmacol Sin"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1056\/NEJMoa061759","article-title":"Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations","volume":"355","year":"2006","journal-title":"N Engl J Med"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.2040-1124.2011.00106.x","article-title":"Genetics and pathophysiology of neonatal diabetes mellitus","volume":"2","year":"2011","journal-title":"J Diabetes Investig"},{"key":"ref471","doi-asserted-by":"crossref","first-page":"2311","DOI":"10.2337\/dc12-2166","article-title":"Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion","volume":"36","year":"2013","journal-title":"Diab Care"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/j.1399-5448.2008.00433.x","article-title":"Diagnosis and treatment of neonatal diabetes: a United States experience","volume":"9","year":"2008","journal-title":"Pediatr Diabetes"},{"key":"ref161","first-page":"1089","article-title":"Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings","volume":"29","year":"2016","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref391","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","year":"2008"},{"key":"ref251","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1056\/NEJMoa055068","article-title":"Activating mutations in the ABCC8 gene in neonatal diabetes mellitus","volume":"355","year":"2006","journal-title":"N Engl J Med"},{"key":"ref421","doi-asserted-by":"crossref","first-page":"17539","DOI":"10.1073\/pnas.0404756101","article-title":"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features","volume":"101","year":"2004","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"http:\/\/www.degruyter.com\/view\/j\/jpem.2016.29.issue-12\/jpem-2016-0149\/jpem-2016-0149.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0149\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T01:41:00Z","timestamp":1619055660000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2016-0149\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,1]]},"references-count":46,"journal-issue":{"issue":"12"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2016-0149","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,1,1]]}}}