Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
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 …
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
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
levels, play a significant role in glucose homeostasis. Glucose-stimulated insulin secretion …