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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   Crossref logo
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Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase
Human Genomics. 2021;15(1):   Crossref logo
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Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism
Molecular Genetics and Metabolism. 2004;81:45-51   Crossref logo
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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   Crossref logo
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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):   Crossref logo
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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   Crossref logo
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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):   Crossref logo

Hyperinsulinism-hyperammonemia syndrome caused by mutant glutamate dehydrogenase accompanied by novel enzyme kinetics
Human Genetics. 1999;104(6):476-479   Crossref logo
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Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome
The Journal of Pediatrics. 2000;136(1):69-72   Crossref logo
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Familial case of congenital hyperinsulinism associated with mutation in the GLUD1 gene
Problems of Endocrinology. 2017;63(3):195-200   Crossref logo
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