{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T09:52:40Z","timestamp":1768470760803,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,5,5]],"date-time":"2015-05-05T00:00:00Z","timestamp":1430784000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A newborn <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apanese girl with <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>abuki syndrome had neonatal persistent hyperinsulinemic hypoglycemia, which seemed to be a rare complication of <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>abuki syndrome. On sequence analysis she was found to have a novel heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">KMT2D<\/jats:styled-content><\/jats:italic> mutation. Diazoxide therapy was effective for the hypoglycemia. Hypoglycemia should be considered when <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>abuki syndrome patients have convulsion or other non\u2010specific symptoms. Diazoxide may help to improve hypoglycemia in patients with <jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>abuki syndrome complicated with hyperinsulinemic hypoglycemia.<\/jats:p>","DOI":"10.1111\/ped.12574","type":"journal-article","created":{"date-parts":[[2015,5,6]],"date-time":"2015-05-06T01:09:02Z","timestamp":1430874542000},"page":"726-728","source":"Crossref","is-referenced-by-count":10,"title":["Neonatal case of novel <i><scp>KMT2D<\/scp><\/i> mutation in <scp>K<\/scp>abuki syndrome with severe hypoglycemia"],"prefix":"10.1111","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7295-4933","authenticated-orcid":false,"given":"Yuji","family":"Gohda","sequence":"first","affiliation":[{"name":"Department of Pediatrics Sasebo Kyosai Hospital  Sasebo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shohki","family":"Oka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Sasebo Kyosai Hospital  Sasebo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamoto","family":"Matsunaga","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Matsunaga Clinic  Sasebo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki University School of Medicine  Nagasaki Japan"},{"name":"Department of Pediatrics Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koh\u2010ichiro","family":"Yoshiura","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Nagasaki University School of Medicine  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Kondoh","sequence":"additional","affiliation":[{"name":"Division of Developmental Disability Misakaenosono Mutsumi Developmental, Medical, and Welfare Center  Isahaya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Division of Developmental Disability Misakaenosono Mutsumi Developmental, Medical, and Welfare Center  Isahaya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310312"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30144"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1159\/000342253","article-title":"Infrequent manifestations of Kabuki syndrome in a patient with novel MLL2 mutation","volume":"3","author":"Zarate YA","year":"2012","journal-title":"Mol. Syndromol."},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<362::AID-AJMG11>3.0.CO;2-W"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1385\/EP:15:3:233"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36256"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01506-06"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06145"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12574","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12574","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T10:50:06Z","timestamp":1695984606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,5]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1111\/ped.12574"],"URL":"https:\/\/doi.org\/10.1111\/ped.12574","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,5]]}}}