Neonatal diabetes mellitus

L Aguilar-Bryan, J Bryan - Endocrine reviews, 2008 - academic.oup.com
An explosion of work over the last decade has produced insight into the multiple hereditary
causes of a nonimmunological form of diabetes diagnosed most frequently within the first 6 …

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

S Senniappan, B Shanti, C James… - Journal of inherited …, 2012 - Springer
Hyperinsulinaemic hypoglycaemia (HH) is due to the unregulated secretion of insulin from
pancreatic β-cells. A rapid diagnosis and appropriate management of these patients is …

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

P Proks, AL Arnold, J Bruining, C Girard… - Human molecular …, 2006 - academic.oup.com
Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic
aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene …

Swedish national guideline for prevention and treatment of neonatal hypoglycaemia in newborn infants with gestational age≥ 35 weeks

D Wackernagel, A Gustafsson… - Acta …, 2020 - Wiley Online Library
Aim Postnatal hypoglycaemia in newborn infants remains an important clinical problem
where prolonged periods of hypoglycaemia are associated with poor neurodevelopmental …

[HTML][HTML] An overview of hypoglycemia in children including a comprehensive practical diagnostic flowchart for clinical use

A Casertano, A Rossi, S Fecarotta… - Frontiers in …, 2021 - frontiersin.org
Hypoglycemia is the result of defects/impairment in glucose homeostasis. The main
etiological causes are metabolic and/or endocrine and/or other congenital disorders …

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

RR Kapoor, J Locke, K Colclough, J Wales, JJ Conn… - Diabetes, 2008 - Am Diabetes Assoc
OBJECTIVE—Mutations in the human HNF4A gene encoding the hepatocyte nuclear factor
(HNF)-4α are known to cause maturity-onset diabetes of the young (MODY), which is …

The investigation and management of neonatal hypoglycaemia

S Deshpande, MW Platt - Seminars in fetal and neonatal medicine, 2005 - Elsevier
Assessment of neonatal glycaemic status requires accurate and reliable measurement of
blood glucose concentrations. Most point-of-care technologies are, however, unsuitable for …

[图书][B] Pediatric endocrinology: growth, adrenal, sexual, thyroid, calcium, and fluid balance disorders

F Lifshitz - 2006 - books.google.com
Celebrating more than twenty years as the single best source in the field, this Fifth Edition
has now expanded into two cornerstone volumes with 53 fully inclusive chapters and 73 …

[PDF][PDF] Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management

Z Mohamed, VB Arya, K Hussain - Journal of clinical research …, 2012 - jag.journalagent.com
Hyperinsulinaemic hypoglycaemia (HH) is characterized by unregulated insulin secretion
from pancreatic β-cells. Untreated hypoglycaemia in infants can lead to seizures …

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK …

HBT Christesen, ND Tribble, A Molven… - European Journal of …, 2008 - academic.oup.com
Objective Activating glucokinase (GCK) mutations are a rarely reported cause of congenital
hyperinsulinism (CHI), but the prevalence of GCK mutations is not known. Methods From a …