Congenital Hyperinsulinism in A Newborn with A Novel Homozygous Mutation (P.Q392H) in The ABCC8 Gene

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dc.contributor.authorInce, Deniz Anuk
dc.contributor.authorSahin, Nursel Muratoglu
dc.contributor.authorEcevit, Ayse
dc.contributor.authorKurt, Abdullah
dc.contributor.authorKinik, Sibel Tulgar
dc.contributor.authorFlanagan, Sarah E.
dc.contributor.authorHussain, Khalid
dc.contributor.authorTarcan, Aylin
dc.contributor.orcIDhttps://orcid.org/0000-0002-4369-2110en_US
dc.contributor.orcIDhttps://orcid.org/0000-0002-8215-0146en_US
dc.contributor.orcIDhttps://orcid.org/0000-0002-2232-8117en_US
dc.contributor.orcIDhttps://orcid.org/0000-0002-4430-444Xen_US
dc.contributor.orcIDhttps://orcid.org/0000-0002-8670-6340en_US
dc.contributor.pubmedID24945427en_US
dc.contributor.researcherIDI-6746-2016en_US
dc.contributor.researcherIDAAA-1266-2019en_US
dc.contributor.researcherIDAAJ-4616-2021en_US
dc.contributor.researcherIDHIU-0129-2022en_US
dc.contributor.researcherIDAFK-0591-2022en_US
dc.date.accessioned2023-12-27T11:44:45Z
dc.date.available2023-12-27T11:44:45Z
dc.date.issued2014
dc.description.abstractCongenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.en_US
dc.identifier.endpage1255en_US
dc.identifier.issn0334-018Xen_US
dc.identifier.issue11-12en_US
dc.identifier.scopus2-s2.0-84961353466en_US
dc.identifier.startpage1253en_US
dc.identifier.urihttp://hdl.handle.net/11727/11227
dc.identifier.volume27en_US
dc.identifier.wos000345022900037en_US
dc.language.isoengen_US
dc.relation.isversionof10.1515/jpem-2014-0072en_US
dc.relation.journalJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISMen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectcongenital hyperinsulinismen_US
dc.subjecthypoglycemiaen_US
dc.subjectmutationen_US
dc.subjectnewbornen_US
dc.titleCongenital Hyperinsulinism in A Newborn with A Novel Homozygous Mutation (P.Q392H) in The ABCC8 Geneen_US
dc.typearticleen_US

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