Clinical characteristics and phenotype–genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

(2013) Ritika R Kapoor et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

(2013) Flavio Faletra et al.   GENE

Hyperinsulinemic Hypoglycemia: Experience in A Series of 17 Cases

(2013) Yılmaz Ağladıoğlu Sebahat et al.   Journal of Clinical Research in Pediatric Endocrinology

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hyperinsulinaemic Hypoglycaemia: Genetic Mechanisms, Diagnosis and Management

(2012) Zainaba Mohamed et al.   Journal of Clinical Research in Pediatric Endocrinology

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism

(2011) I Banerjee et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism

(2011) So Eun Park et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genome-Wide Homozygosity Analysis RevealsHADHMutations as a Common Cause of Diazoxide-Responsive Hyperinsulinemic-Hypoglycemia in Consanguineous Pedigrees

(2011) Sarah E. Flanagan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

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

Molecular and Clinical Analysis of Japanese Patients with Persistent Congenital Hyperinsulinism: Predominance of Paternally Inherited Monoallelic Mutations in the KATPChannel Genes

(2010) Tohru Yorifuji et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The hyperinsulinism/hyperammonemia syndrome

(2010) Andrew A. Palladino et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

The spectrum ofABCC8mutations in Norwegian patients with congenital hyperinsulinism of infancy

(2009) T Sandal et al.   CLINICAL GENETICS

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