{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:52:07Z","timestamp":1756461127376},"reference-count":46,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>O diabetes neonatal (DN) \u00e9 uma condi\u00e7\u00e3o rara caracterizada por hiperglicemia, que necessita de tratamento com insulina, diagnosticado nos primeiros meses de vida. Clinicamente pode ser classificado em DN transit\u00f3rio quando ocorre remiss\u00e3o da doen\u00e7a em poucos meses, podendo haver recorr\u00eancia posterior; ou permanente quando, como o nome indica, n\u00e3o ocorre remiss\u00e3o. Ambas as condi\u00e7\u00f5es s\u00e3o geneticamente heterog\u00eaneas; entretanto a maioria dos casos de DN transit\u00f3rio \u00e9 decorrente de anormalidades da regi\u00e3o de imprinted no cromossomo 6q24. Muta\u00e7\u00f5es ativadoras em heterozigose no gene KCNJ11, que codifica a subunidade Kir6.2 do canal de pot\u00e1ssio ATP-sens\u00edvel, s\u00e3o a causa mais comum de DN permanente. No presente artigo, discutimos as caracter\u00edsticas cl\u00ednicas do DN, os mecanismos moleculares envolvidos e suas implica\u00e7\u00f5es terap\u00eauticas.<\/jats:p>","DOI":"10.1590\/s0004-27302008000200005","type":"journal-article","created":{"date-parts":[[2008,4,24]],"date-time":"2008-04-24T04:17:23Z","timestamp":1209010643000},"page":"181-187","source":"Crossref","is-referenced-by-count":3,"title":["Diabetes melito neonatal"],"prefix":"10.1590","volume":"52","author":[{"given":"Lucimary C.","family":"Gurgel","sequence":"first","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina S.","family":"Mois\u00e9s","sequence":"additional","affiliation":[{"name":"Universidade Federal de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1210\/en.2006-0152","article-title":"Pharmacogenetics and beyond: the interaction of the interaction of therapeutic response, B-cell physiology and genetics in diabetes","volume":"143","author":"Hattersley AT","year":"2006","journal-title":"Endocrinology","ISSN":"http:\/\/id.crossref.org\/issn\/0013-7227","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1056\/NEJMoa032922","article-title":"Activating muttions in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes","volume":"350","author":"Gloyn AL","year":"2004","journal-title":"N Engl J Med","ISSN":"http:\/\/id.crossref.org\/issn\/0028-4793","issn-type":"print"},{"key":"ref3","first-page":"77","article-title":"Neonatal diabetes: how research unraveling the genetic puzzle has both 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