Article
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.
The Journal of clinical endocrinology and metabolism - 1 Apr 2001
MacMullen C, Fang J, Hsu B Y, Kelly A, de Lonlay-Debeney P, Saudubray J M, Ganguly A, Smith T J, Stanley C A
Abstract excerpt
The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism in which affected children have recurrent symptomatic hypoglycemia together with asymptomatic, persistent elevations of plasma ammonium levels. We have shown that the disorder is caused by dominant mutatio...
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