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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: kelly a. J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414. J Clin Endocrinol Metab. 2001. PMID: 11297618
Disorders of glutamate metabolism.
Kelly A, Stanley CA. Kelly A, et al. Ment Retard Dev Disabil Res Rev. 2001;7(4):287-95. doi: 10.1002/mrdd.1040. Ment Retard Dev Disabil Res Rev. 2001. PMID: 11754524 Review.
3,752 results