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  • Response to sirolimus in a case of diffuse congenital hyperinsulinaemic hypoglycaemia due to homozygous KCNJ11 mutation.

Response to sirolimus in a case of diffuse congenital hyperinsulinaemic hypoglycaemia due to homozygous KCNJ11 mutation.

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2022 Nov 21 Others Fist_Author_Year_PM

Full Author : ['Oza, Chirantap Markand', 'Khadilkar, Vaman', 'Kadam, Sandeep', 'Khadilkar, Anuradha']
Journal Title : BMJ case reports
Chapter : Section9
Journal Year : 2022

We present a case of a male neonate with refractory and persistent neonatal hypoglycaemia not responding to octreotide. On evaluation for hypoglycaemia, his cortisol was within the reference range while the serum insulin concentrations were high. Gallium-.....

Keywords : ['diffuse congenital hyperinsulinaemic hypoglycaemia due', 'homozygous mutation', 'sirolimus', 'response', 'case']