4 Result(s)

Article

Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy

Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line med...

Ved Bhushan Arya, Qadeer Aziz, Azizun Nessa… in International Journal of Pediatric Endocri… (2014)

Article

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case...

Sophia Tahir, Lieve GJ Leijssen, Maha Sherif… in International Journal of Pediatric Endocri… (2015)

Article

Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report

Mary Abraham, Sarah Flanagan, Vinutha Shetty… in International Journal of Pediatric Endocri… (2015)

Article

Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology

Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5–5.5 mmol/L. Insulin, the only gl...

Huseyin Demirbilek, Sofia A. Rahman… in International Journal of Pediatric Endocri… (2017)