Author:
Palladino Andrew A.,Stanley Charles A.
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference24 articles.
1. Cochrane WA, Payne WW, Simpkiss MJ, Woolf LI. Familial hypoglycemia precipitated by amino acids. J Clin Invest. 1956;35:411–22.
2. Zammarchi E, Filippi L, Novembre E, Donati MA. Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism. 1996;45:957–60.
3. Stanley CA, Lieu YK, Hsu BYL, Burlina AB, Greenberg CR, Hopwood NJ, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998;338:1352–7.
4. Stanley CA. The hyperinsulinism-hyperammonemia syndrome: gain of function mutations of glutamate dehydrogenase. In: Dunger DB, editor. Genetic insights in paediatric endocrinology and metabolism. Bristol: BioScientifica; 2000. p. 23–30.
5. MacMullen C, Fang J, Hsu BYL, Kelly A, deLonlay-Debeney P, Saudubray JM, et al. Hyperinsulinism/Hyperammonemia syndrome in children with regulatory mutations in the inhibitory GTP binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab. 2001;86:1782–7
Cited by
77 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献