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    Open Access

    Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy

    Mutations in ABCC8 and KCNJ11 are the most common cause of congenital hyperinsulinism (CHI). Recessive as well as dominant acting ABCC8/KCNJ11 mutations have been described. Diazoxide, which is the first line med...

    Ved Bhushan Arya, Qadeer Aziz, Azizun Nessa… in International Journal of Pediatric Endocri… (2014)

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