Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital hyperinsulinism is a hereditary disorder characterized by hight insulin levels that result in hypogycemia, low levels in blood glucose.
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Stanescu DE et al. (2012) Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A.
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Pinney SE et al. (2008) Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
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James C et al. (2009) The genetic basis of congenital hyperinsulinism.
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Huopio H et al. (2002) K(ATP) channels and insulin secretion disorders.
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Meissner T et al. (2003) Long-term follow-up of 114 patients with congenital hyperinsulinism.
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Sandal T et al. (2009) The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
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Orphanet article Orphanet ID 165988
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Wikipedia article Wikipedia EN (Hyperinsulinemic_hypoglycemia)
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