{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:18:57Z","timestamp":1765887537040},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,2,1]],"date-time":"2013-02-01T00:00:00Z","timestamp":1359676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives de P\u00e9diatrie"],"published-print":{"date-parts":[[2013,2]]},"DOI":"10.1016\/j.arcped.2012.11.009","type":"journal-article","created":{"date-parts":[[2013,7,12]],"date-time":"2013-07-12T18:19:03Z","timestamp":1373653143000},"page":"199-202","source":"Crossref","is-referenced-by-count":2,"title":["Diab\u00e8te n\u00e9onatal permanent par mutation r\u00e9cessive du g\u00e8ne de l\u2019insuline\u00a0: une observation familiale"],"prefix":"10.1016","volume":"20","author":[{"given":"M.","family":"Di Benedetto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"P\u00e9lissier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Darteyre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Cav\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.-L.","family":"St\u00e9phan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.arcped.2012.11.009_bib0005","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1210\/jc.2006-2490","article-title":"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11\u00a0and ABCC8\u00a0Mutation Carriers","volume":"92","author":"Stanik","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.arcped.2012.11.009_bib0010","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1007\/s00125-009-1416-6","article-title":"Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1\u00a0in 260,000\u00a0live births","volume":"52","author":"Slingerland","year":"2009","journal-title":"Diabetologia"},{"key":"10.1016\/j.arcped.2012.11.009_bib0015","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1007\/s11892-011-0234-7","article-title":"Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment","volume":"11","author":"Greeley","year":"2011","journal-title":"Curr Diab Rep"},{"key":"10.1016\/j.arcped.2012.11.009_bib0020","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1750-1172-5-29","article-title":"Wolcott-Rallison syndrome","volume":"5","author":"Julier","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.arcped.2012.11.009_bib0025","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/archdischild-2012-301744","article-title":"Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans","volume":"97","author":"Habeb","year":"2012","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.arcped.2012.11.009_bib0030","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s11154-010-9151-3","article-title":"Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene","volume":"11","author":"Stoy","year":"2010","journal-title":"Rev Endocr Metab Disord"},{"key":"10.1016\/j.arcped.2012.11.009_bib0035","doi-asserted-by":"crossref","first-page":"15040","DOI":"10.1073\/pnas.0707291104","article-title":"Insulin gene mutations as a cause of permanent neonatal diabetes","volume":"104","author":"Stoy","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.arcped.2012.11.009_bib0040","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.2337\/db07-1467","article-title":"Mutations in the insulin gene can cause MODY and autoantibody-negative type 1\u00a0diabetes","volume":"57","author":"Molven","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/j.arcped.2012.11.009_bib0045","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/1471-2350-11-42","article-title":"Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY)","volume":"11","author":"Boesgaard","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.arcped.2012.11.009_bib0050","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1073\/pnas.0910533107","article-title":"Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis","volume":"107","author":"Garin","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.arcped.2012.11.009_bib0055","series-title":"GeneReviewsTM","article-title":"Permanent neonatal diabetes mellitus","author":"De Le\u00f3n","year":"1993"},{"key":"10.1016\/j.arcped.2012.11.009_bib0060","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1530\/EJE-11-0208","article-title":"Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals","volume":"165","author":"Raile","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.arcped.2012.11.009_bib0065","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.2337\/db07-1358","article-title":"Heterozygous missense mutations in the insuline gene are linked to permanent diabetes appearing in the neonatal period or in early-infancy: a report from the French ND study group","volume":"57","author":"Polak","year":"2008","journal-title":"Diabetes"},{"key":"10.1016\/j.arcped.2012.11.009_bib0070","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1007\/s00125-011-2362-7","article-title":"Early insulin therapy prevents beta cell loss in a mouse model for permanent neonatal diabetes (Munich Ins2(C95S))","volume":"55","author":"Kautz","year":"2012","journal-title":"Diabetologia"},{"key":"10.1016\/j.arcped.2012.11.009_bib0075","doi-asserted-by":"crossref","first-page":"e26","DOI":"10.1111\/j.1399-5448.2011.00809.x","article-title":"Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene","volume":"13","author":"Rachmiel","year":"2012","journal-title":"Pediatr Diabetes"},{"key":"10.1016\/j.arcped.2012.11.009_bib0080","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1111\/j.1464-5491.2007.02373.x","article-title":"Sulphonylurea therapy improves cognition in a patient with the V59M\u00a0KCNJ11\u00a0mutation","volume":"25","author":"Slingerland","year":"2008","journal-title":"Diabet Med"}],"container-title":["Archives de P\u00e9diatrie"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X12005003?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929693X12005003?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,14]],"date-time":"2018-10-14T16:24:07Z","timestamp":1539534247000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929693X12005003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2]]}},"alternative-id":["S0929693X12005003"],"URL":"https:\/\/doi.org\/10.1016\/j.arcped.2012.11.009","relation":{},"ISSN":["0929-693X"],"issn-type":[{"value":"0929-693X","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2]]}}}