{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:44:24Z","timestamp":1778640264458,"version":"3.51.4"},"reference-count":44,"publisher":"Walter de Gruyter GmbH","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of severe and persistent hypoglycaemia in neonates. The treatment of severe diazoxide unresponsive HH involves near total pancreatectomy. Mammalian target of rapamycin (mTOR) is a protein kinase that regulates cellular proliferation. mTOR inhibitors are used in cancer patients and recently found to be effective in the treatment of insulinoma and HH patients.<\/jats:p><jats:p>A 36 weeks large for gestational age neonate presented with severe hypoglycaemia on day 1 of life. The hypoglycaemia screen confirmed HH and genetic testing revealed compound heterozygous<\/jats:p><jats:p>We report the first case of compound heterozygous<\/jats:p>","DOI":"10.1515\/jpem-2014-0371","type":"journal-article","created":{"date-parts":[[2014,12,17]],"date-time":"2014-12-17T17:00:44Z","timestamp":1418835644000},"source":"Crossref","is-referenced-by-count":9,"title":["Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation"],"prefix":"10.1515","volume":"28","author":[{"given":"Pratik","family":"Shah","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ved Bhushan","family":"Arya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah E.","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref411","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.molcel.2006.03.029","article-title":"Prolonged rapamycin treatment inhibits mTORC assembly Akt","volume":"22","author":"Sarbassov","year":"2006","journal-title":"Mol Cell"},{"key":"ref21","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-6-63","article-title":"Congenital hyperinsulinism current trends in diagnosis and therapy","author":"Arnoux","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"ref231","first-page":"17","article-title":"The molecular mechanisms diagnosis and management of congenital hyperinsulinism","author":"Senniappan","year":"2013","journal-title":"J Endocrinol Metab"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1136\/jmg.2008.064337","article-title":"The genetic basis of congenital hyperinsulinism","author":"James","year":"2009","journal-title":"J Med Genet"},{"key":"ref61","first-page":"20","article-title":"Nah SA Surgical management of congenital hyperinsulinism of infancy","author":"Pierro","year":"2011"},{"key":"ref31","article-title":"analysis of focal and diffuse forms of congenital hyperinsulinism","volume":"20","author":"Rahier","year":"2011"},{"key":"ref171","doi-asserted-by":"crossref","DOI":"10.1007\/s00125-012-2475-7","article-title":"AD Rapamycin toxicity in MIN cells and rat and human islets is mediated by the inhibition of mTOR complex mTORC","author":"Barlow","year":"2012","journal-title":"Diabetologia"},{"key":"ref311","first-page":"691","article-title":"RE Persistent hyperinsulinemic hypoglycemia of infancy : constitutive activation of the mTOR pathway with associated exocrine - 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