Associated Papers
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.
Yavas Abali Z et al.
Endocrine, 2025
Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.
Abdulghfar MM et al.
Journal of Medical Case Reports, 2025
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Aftab S et al.
Endocrine Connections, 2023
New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.
Gariani K et al.
Brain Sciences, 2022
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Luczkowska K et al.
Human Genomics, 2020
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
Xu ZD et al.
Endocrine Connections, 2018
Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.
Balasubramaniam S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
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