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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease congenital hyperinsulinism
Symptom C0020598|hypoglycemia
Sentences 3
PubMedID- 21536946 Inactivating mutations of the β-cell atp-sensitive k+ channel (katp channel) are the most common cause of hypoglycemia due to congenital hyperinsulinism (1).
PubMedID- 24621811 In comparison with the severe hypoglycemia characteristic of patients with congenital hyperinsulinism (chi) secondary to loss of katp channel function (reviewed in ), sur1−/− mice, with the equivalent channel deficit, show near normal glucose homeostasis unless stressed , , , .
PubMedID- 23275527 Context: hypoglycemia due to congenital hyperinsulinism (hi) is caused by mutations in 9 genes.

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