Dissemin is shutting down on January 1st, 2025

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Wiley Open Access, Clinical Case Reports, 10(3), p. 884-887, 2015

DOI: 10.1002/ccr3.370

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The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Journal article published in 2015 by Susan M. O 'connell, Susan M. O'Connell, Peter Proks, Holger Kramer, Katia Kk Mattis ORCID, Gregor Sachse, Caroline Joyce ORCID, Jayne A. L. Houghton, Sian Ellard, Andrew T. Hattersley, Frances M. Ashcroft, Stephen M. P. O 'riordan, Stephen M. P. O'Riordan
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Journal Article ; This is an open access article available at http://onlinelibrary.wiley.com/doi/10.1002/ccr3.370/full ; In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if the expected response is not observed.