Article
Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Clinical endocrinology - 1 Apr 2005
Ohkubo Kumiko, Nagashima Mariko, Naito Yuko, Taguchi Tomoaki, Suita Sachiyo, Okamoto Nobuhiko, Fujinaga Hideshi, Tsumura Kumi, Kikuchi Kiyoshi, Ono Junko
Abstract excerpt
OBJECTIVE: Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a disorder of glucose metabolism that is characterized by dysregulated secretion of insulin from pancreatic beta-cells. This disease has been reported to be associated with mutations of the sulfonylurea receptor SUR1 (ABCC8) or the inward-rectifying potassium channel Kir6.2 (KCNJ11), which are two subunits of the pancreatic beta-cell...
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