Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

• Autori principali: Emregül Işık (Autore), Hüseyin Demirbilek (Autore), Jayne A. Houghton (Autore), Sian Ellard (Autore), Sarah E. Flanagan (Autore), Khalid Hussain (Autore)
• Natura: Libro
• Pubblicazione: Galenos Yayincilik, 2019-03-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the ABCC8 and KCNJ11 genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been...