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| A Case of Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome due to a Mutation in the Glutamate Dehydrogenase Gene (GLUD1). | |
| Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Jung Min Ko, Han Wook Yoo | |
| Ann Pediatr Endocrinol Metab. 2009;14(2):168-173. | |
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Congenital Hyperinsulinism Due to Activating Mutations of Glutamate Dehydrogenase: The Hyperinsulinism/Hyperammonemia Syndrome Frontiers in Diabetes. 2012;100-111  Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase Human Genomics. 2021;15(1): Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism Molecular Genetics and Metabolism. 2004;81:45-51 On the reversibility of glutamate dehydrogenase and the source of hyperammonemia in the hyperinsulinism/hyperammonemia syndrome Advances in Enzyme Regulation. 2010;50(1):34-43 A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report Journal of Medical Case Reports. 2016;10(1): Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of theGlutamate dehydrogenase 1gene Journal of Paediatrics and Child Health. 2008;44(9):517-519 OR05-2 Targeted Inhibition of Glutamate Dehydrogenase by Alpha-Tocopherol: A Potential Novel Treatment for Hyperinsulinism Hyperammonemia Syndrome Journal of the Endocrine Society. 2019;3(Supplement_1): Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics Human Genetics. 1999;104(6):476-479 Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome The Journal of Pediatrics. 2000;136(1):69-72 Familial case of congenital hyperinsulinism associated with mutation in the GLUD1 gene Problems of Endocrinology. 2017;63(3):195-200 |
