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Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.
MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA; Hyperinsulinism/hyperammonemia Contributing Investigators. MacMullen C, et al. Among authors: smith tj. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414. J Clin Endocrinol Metab. 2001. PMID: 11297618
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Li C, Chen P, Palladino A, Narayan S, Russell LK, Sayed S, Xiong G, Chen J, Stokes D, Butt YM, Jones PM, Collins HW, Cohen NA, Cohen AS, Nissim I, Smith TJ, Strauss AW, Matschinsky FM, Bennett MJ, Stanley CA. Li C, et al. Among authors: smith tj. J Biol Chem. 2010 Oct 8;285(41):31806-18. doi: 10.1074/jbc.M110.123638. Epub 2010 Jul 29. J Biol Chem. 2010. PMID: 20670938 Free PMC article.
1,730 results