Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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

Neurochemical Changes in the Rat Occipital Cortex and Hippocampus after Repetitive and Profound Hypoglycemia During the Neonatal Period: An Ex Vivo 1H Magnetic Resonance Spectroscopy Study

(2013) Kun Liu et al.   MOLECULAR NEUROBIOLOGY

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

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

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

(2012) Senthil Senniappan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

(2011) Esmeralda Martins et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital hyperinsulinism: current trends in diagnosis and therapy

(2011) Jean-Baptiste Arnoux et al.   Orphanet Journal of Rare Diseases

Síndrome de hiperinsulinismo-hiperamoniemia y epilepsia mioclónica grave de la infancia

(2010) F. Pérez Errazquin et al.   NEUROLOGIA

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

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

(2008) R. R. Kapoor et al.   DIABETES

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

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