Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

[HTML][HTML] Hyperinsulinemic hypoglycemia in children and adolescents: recent advances in understanding of pathophysiology and management

M Gϋemes, SA Rahman, RR Kapoor… - Reviews in Endocrine …, 2020 - Springer
Hyperinsulinemic hypoglycemia (HH) is characterized by unregulated insulin release,
leading to persistently low blood glucose concentrations with lack of alternative fuels, which …

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

F Brioude, JM Kalish, A Mussa, AC Foster… - Nature Reviews …, 2018 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

SE Flanagan, F Vairo, MB Johnson… - Pediatric …, 2017 - Wiley Online Library
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present
as part of a wider syndrome. For approximately 40%‐50% of individuals with this condition …

Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the …

A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth-
cancer predisposition disorder. Given the absence of consensual recommendations or …

[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 …

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 …

A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia

MC De Mingo Alemany, L Mifsud Grau… - Channels, 2020 - Taylor & Francis
Congenital hyperinsulinemic hypoglycemia is the most frequent cause of persistent and
recurrent hypoglycemia in the first years of life and in many patients rare genetic variants …

[HTML][HTML] Congenital hyperinsulinaemic hypoglycaemia—a review and case presentation

S Krawczyk, K Urbanska, N Biel, MJ Bielak… - Journal of Clinical …, 2022 - mdpi.com
Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent
hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births …

Modulation of ionic channels and insulin secretion by drugs and hormones in pancreatic beta cells

M Velasco, CM Díaz-García, C Larqué, M Hiriart - Molecular pharmacology, 2016 - ASPET
Pancreatic beta cells, unique cells that secrete insulin in response to an increase in glucose
levels, play a significant role in glucose homeostasis. Glucose-stimulated insulin secretion …