Hyperinsulinism-hyperammonemia syndrome in an infant with seizures

Hyperinsulinism-hyperammonemia syndrome in an infant with seizures

Hyperinsulinism-hyperammonemia syndrome (HI/HA) is the second most common form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). The main clinical characteristics of HI/HA syndrome are repeated episodes of symptomatic hypoglycemia, but not usually severe. Consequently, children with HI/...

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Bibliographic Details
Main Authors: Strajnar A, Tansek MZ, Podkrajsek KT, Battelino T, Groselj U
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Balkan Journal of Medical Genetics
Subjects:
diazoxide
glud1 gene
glutamate dehy-drogenase
hyperinsulinism-hyperammonemia (hi/ha) syndrome
persistent hyperinsulinemic hypoglycemia of infancy
Online Access:https://doi.org/10.2478/bjmg-2018-0014

Internet

https://doi.org/10.2478/bjmg-2018-0014

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