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Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome
Turkish Journal of Pediatrics
Aka S, Alanay Y, Boodhansingh KE, Stanley CA, Semiz S. Seizures and diagnostic difficulties in hyperinsulinism/hyperammonemia syndrome. Turk J Pediatr 2016; 58: 541-544. Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare disorder presented with recurrent hypoglycemia and elevated serum ammonia, which may lead to development delays, permanent neurologic damages, if it remains underdiagnosed. It is caused by activating mutations in the GLUD1 gene which encodes the intra-mitochondrialdoi:10.24953/turkjped.2016.05.014 pmid:28621098 fatcat:yp7qkfxdcje23ovnlqoxqtz2ri