A newborn or infant with hypoglycemia presents an urgent diagnostic and therapeutic
challenge. The clinical features must be rapidly assessed and a plan of action developed …

Aims Congenital hyperinsulinism (HI) is the most common cause of persistent
hypoglycaemia in infants and children. Exendin‐(9‐39), an inverse glucagon‐like peptide 1 …

Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births
worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major …

Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the
differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism …

The patient is a 28-year-old Japanese man diagnosed with severe congenital
hyperinsulinemic-hypoglycemia six months after birth. Clinical records revealed no imaging …

Abstract Microcystin-leucine-arginine (MC-LR), produced by freshwater cyanobacteria, is a
potential pancreatic β-cell toxin. In this study, the function of the mouse pancreatic β-cell line …

16p11. 2 microdeletion syndrome is a recognisable chromosomal anomaly caused by
microdeletions in the 16p11. 2 locus. It is characterized by developmental delay intellectual …

Neurovegetative and autonomic symptoms are common presentations of various diseases,
ranging from psychosomatic to severe organic disorders. A 23-year-old man presented with …

Background Rare diseases are ailments which impose a heavy burden on individual
patients and global society as a whole. The rare disease management landscape is not a …

Congenital hyperinsulinism (CHI) caused by a glucokinase‐(GCK‐) activating mutation
shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43 …