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A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.

作者信息

Toriumi Yoshitaka, Murata Kohji, Taketani Takeshi, Uchiyama Atsushi, Ohie Takaharu, Yamaguchi Seiji

机构信息

Department of Paediatrics, Shimane University School of Medicine, Izumo, Japan.

出版信息

Eur J Pediatr. 2005 Mar;164(3):182-3. doi: 10.1007/s00431-004-1592-9. Epub 2004 Dec 3.

DOI:10.1007/s00431-004-1592-9
PMID:15580356
Abstract
摘要

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本文引用的文献

1
Clinical and genetic heterogeneity in congenital hyperinsulinism.
Eur J Pediatr. 2002 Jan;161(1):6-20. doi: 10.1007/s004310100850.
2
Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.谷氨酸脱氢酶抑制性鸟苷三磷酸结合结构域发生调节性突变的儿童中的高胰岛素血症/高氨血症综合征
J Clin Endocrinol Metab. 2001 Apr;86(4):1782-7. doi: 10.1210/jcem.86.4.7414.
3
Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.高胰岛素血症/高氨血症综合征患儿的蛋白质敏感型和空腹低血糖症
J Pediatr. 2001 Mar;138(3):383-9. doi: 10.1067/mpd.2001.111818.
4
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.高胰岛素血症/高氨血症综合征的分子基础与特征：谷氨酸脱氢酶基因第11和12外显子突变占主导。HI/HA协作研究者。
Diabetes. 2000 Apr;49(4):667-73. doi: 10.2337/diabetes.49.4.667.
5
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.谷氨酸脱氢酶基因调控突变婴儿的高胰岛素血症和高氨血症
N Engl J Med. 1998 May 7;338(19):1352-7. doi: 10.1056/NEJM199805073381904.
6
A syndrome of congenital hyperinsulinism and hyperammonemia.一种先天性高胰岛素血症和高氨血症综合征。
J Pediatr. 1997 Apr;130(4):661-4. doi: 10.1016/s0022-3476(97)70256-7.
7
Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.对一名患有家族性亮氨酸敏感性低血糖症并伴有高氨血症患者的生化评估。
Metabolism. 1996 Aug;45(8):957-60. doi: 10.1016/s0026-0495(96)90262-0.