Browsing 2015 RD&E publications by Author "Van Karnebeek, C."

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Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

Harel, S.; Cohen, A. S. A.; Hussain, K.; Flanagan, Sarah; Schlade-Bartusiak, K.; Patel, M.; Courtade, J.; Li, J. B. W.; Van Karnebeek, C.; Kurata, H.; Ellard, Sian; Chanoine, J-P; Gibson, W. T. (De Gruyter, 2015-03)

Inheritance of two pathogenic ABCC8 alleles typically causes severe congenital hyperinsulinism. We describe a girl and her father, both homozygous for the same ABCC8 mutation, who presented with unusual phenotypes.