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

O'Connell SM., Proks P., Kramer H., Mattis KK., Sachse G., Joyce C., Houghton JAL., Ellard S., Hattersley AT., Ashcroft FM., O'Riordan SMP.

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.

DOI

10.1002/ccr3.370

Type

Journal article

Journal

Clin Case Rep

Publication Date

10/2015

Volume

3

Pages

884 - 887

Keywords

Glibenclamide, K-ATP channel, in vitro, neonatal diabetes

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