Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes:HNF1AandHNF4A

(2012) Diana E. Stanescu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the  -Cell Sulfonylurea Receptor SUR1

(2011) C. M. MacMullen et al.   DIABETES

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

(2011) R. R. Kapoor et al.   DIABETOLOGIA

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

(2010) S E Flanagan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase

(2010) Changhong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

(2010) C. Bellanne-Chantelot et al.   JOURNAL OF MEDICAL GENETICS

Hyperinsulinaemic hypoglycaemia

(2009) R R Kapoor et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Extremes of Clinical and Enzymatic Phenotypes in Children With Hyperinsulinism Caused by Glucokinase Activating Mutations

(2009) S. Sayed et al.   DIABETES

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

(2009) Kenju Shimomura et al.   EMBO Molecular Medicine

Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations

(2009) Ritika R Kapoor et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency and Hyperinsulinemic Hypoglycemia: Characterization of a Novel Mutation and Severe Dietary Protein Sensitivity

(2009) Ritika R. Kapoor et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The genetic basis of congenital hyperinsulinism

(2009) C James et al.   JOURNAL OF MEDICAL GENETICS

Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations

(2008) R. R. Kapoor et al.   DIABETES

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

(2008) Henrik B T Christesen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

(2008) Sara E. Pinney et al.   JOURNAL OF CLINICAL INVESTIGATION