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dc.contributor.authorVedovato, N.en
dc.contributor.authorCliff, E.en
dc.contributor.authorProks, P.en
dc.contributor.authorPoovazhagi, V.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorAshcroft, F. M.en
dc.date.accessioned2017-03-14T15:41:30Z
dc.date.available2017-03-14T15:41:30Z
dc.date.issued2016-07
dc.identifier.citationNeonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. 2016, 59 (7):1430-6 Diabetologiaen
dc.identifier.issn1432-0428
dc.identifier.pmid27118464
dc.identifier.doi10.1007/s00125-016-3964-x
dc.identifier.urihttp://hdl.handle.net/11287/620288
dc.description.abstractThe pancreatic ATP-sensitive potassium (KATP) channel plays a pivotal role in linking beta cell metabolism to insulin secretion. Mutations in KATP channel genes can result in hypo- or hypersecretion of insulin, as in neonatal diabetes mellitus and congenital hyperinsulinism, respectively. To date, all patients affected by neonatal diabetes due to a mutation in the pore-forming subunit of the channel (Kir6.2, KCNJ11) are heterozygous for the mutation. Here, we report the first clinical case of neonatal diabetes caused by a homozygous KCNJ11 mutation.en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urlhttps://dx.doi.org/10.1007/s00125-016-3964-xen
dc.rightsArchived with thanks to Diabetologiaen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleNeonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.en
dc.typeJournal Articleen
dc.identifier.journalDiabetologiaen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden


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