9 Result(s)

Article

Erratum: Advances in the diagnosis and management of hyperinsulinemic hypoglycemia

Nature Clinical Practice Endocrinology & Metabolism (2009) 5: 101–112 [doi:10.1038/ncpendmet1046]

Ritika R Kapoor, Chela James, Khalid Hussain in Nature Reviews Endocrinology (2009)

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)

Article

Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indicatio...

Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa… in Nature Reviews Endocrinology (2018)

Article

Optimizing a Hybrid Closed Loop System in Type 1 Diabetes: A Case Report

We present the optimization of a hybrid closed-loop (HCL) insulin pump system in a type 1 diabetes (T1D) patient in the first 3 months of using the Minimed 670G. An 11-year-old female with 7 years of T1D histo...

Goran Petrovski, Fawziya Al Khalaf, Khalid Hussain, Judith Campbell in Diabetes Therapy (2018)

Article

Continuous Subcutaneous Insulin Infusion Characteristics in Type 1 Diabetes Children and Adolescents in Qatar

To describe continuous subcutaneous insulin infusion (CSII) characteristics in type 1 diabetes mellitus (T1DM) children and adolescents using a standardized protocol in routine clinical settings in Qatar.

Goran Petrovski, Fawziya Al Khalaf, Khalid Hussain, Judith Campbell… in Diabetes Therapy (2018)

Article

Glycemic outcomes of Advanced Hybrid Closed Loop system in children and adolescents with Type 1 Diabetes, previously treated with Multiple Daily Injections (MiniMed 780G system in T1D individuals, previously treated with MDI)

The objective of this study was to evaluate the glycemic outcomes in children and adolescents with Type 1 Diabetes (T1D) previously treated with Multiple Daily Injections (MDI) using a structured initiation pr...

Goran Petrovski, Fawziya Al Khalaf, Judith Campbell, Emma Day… in BMC Endocrine Disorders (2022)