[PDF][PDF] Congenital hyperinsulinism: diagnosis and treatment update
H Demirbilek, K Hussain - Journal of clinical research in …, 2017 - jag.journalagent.com
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …
maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic …
The genetic and molecular mechanisms of congenital hyperinsulinism
S Galcheva, H Demirbilek, S Al-Khawaga… - Frontiers in …, 2019 - frontiersin.org
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …
[HTML][HTML] Approach to hypoglycemia in infants and children
K Gandhi - Translational pediatrics, 2017 - ncbi.nlm.nih.gov
Hypoglycemia is a heterogeneous disorder with many different possible etiologies, including
hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies …
hyperinsulinism, glycogen storage disorders, fatty acid disorders, hormonal deficiencies …
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8
M Clemente, P Cobo, M Antolín… - The Journal of …, 2023 - academic.oup.com
Context Patients with congenital hyperinsulinism due to ABCC8 variants generally present
severe hypoglycemia and those who do not respond to medical treatment typically undergo …
severe hypoglycemia and those who do not respond to medical treatment typically undergo …
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
M Salomon-Estebanez, SE Flanagan, S Ellard… - Orphanet journal of rare …, 2016 - Springer
Abstract Background Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-
ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy …
ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy …
Diagnosis and management of hyperinsulinaemic hypoglycaemia
S Galcheva, S Al-Khawaga, K Hussain - Best Practice & Research Clinical …, 2018 - Elsevier
Hyperinsulinaemic hypoglycaemia (HH) is a heterogeneous condition with dysregulated
insulin secretion which persists in the presence of low blood glucose levels. It is the most …
insulin secretion which persists in the presence of low blood glucose levels. It is the most …
Ligand-mediated structural dynamics of a mammalian pancreatic KATP channel
Regulation of pancreatic K ATP channels involves orchestrated interactions of their subunits,
Kir6. 2 and SUR1, and ligands. Previously we reported K ATP channel cryo-EM structures in …
Kir6. 2 and SUR1, and ligands. Previously we reported K ATP channel cryo-EM structures in …
Complexities in the medical management of hypoglycaemia due to congenital hyperinsulinism
Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia but is the most
common form of recurrent and severe hypoglycaemia causing brain injury and …
common form of recurrent and severe hypoglycaemia causing brain injury and …
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning
J Ni, J Ge, M Zhang, K Hussain, Y Guan… - European Journal of …, 2019 - Springer
Congenital hyperinsulinism (CHI) is a clinically, genetically, and morphologically
heterogeneous disorder. 18 F DOPA-PET CT scanning greatly improves its clinical outcome …
heterogeneous disorder. 18 F DOPA-PET CT scanning greatly improves its clinical outcome …