{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:26:42Z","timestamp":1747186002441,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP17K09842"],"award-info":[{"award-number":["JP17K09842"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2\u00a0months\u2010of\u2010age due to the heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8<\/jats:italic> gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. For &gt;6\u00a0years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. The mutation was transmitted in an autosomal\u2010dominant fashion across three generations of his family, but the severity of diabetes varied among members from neonatal diabetes to mild diabetes. One family member had normal glucose tolerance despite having the mutation. This case presentation could help in the understanding of neonatal diabetes caused by the <jats:italic><jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8<\/jats:italic> gene mutation.<\/jats:p>","DOI":"10.1111\/jdi.13127","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T13:15:01Z","timestamp":1565183701000},"page":"502-505","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the <i><scp>ABCC<\/scp>8<\/i> gene in a male infant: 6\u2010year clinical course"],"prefix":"10.1111","volume":"11","author":[{"given":"Shinsuke","family":"Uraki","sequence":"first","affiliation":[{"name":"First Department of Internal Medicine Wakayama Medical University Wakayama 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