Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism
Author:
Affiliation:
1. National Key Discipline of Pediatrics (Capital Medical University), Ministry of Education; Department of Endocrinology, genetics and metabolism, Beijing Children’s Hospital Affiliated to Capital Medical University, Beijing 100045, China
Publisher
Japan Endocrine Society
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://www.jstage.jst.go.jp/article/endocrj/61/9/61_EJ13-0398/_pdf
Reference29 articles.
1. 1. Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, et al. (2010) Congenital hyperinsulinism. Early Hum Dev 86: 287-294.
2. 2. Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C (2011) KATP channel mutations in congenital hyperinsulinism. Semin Pediatr Surg 20: 18-22.
3. 3. Hussain K (2008) Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy. Horm Res 69: 2-13.
4. 4. Hu S, Xu Z, Yan J, Liu M, Sun B, et al. (2012) The treatment effect of diazoxide on 44 patients with congenital hyperinsulinism. J Pediatr Endocrinol Metab 25: 1119-1122.
5. 5. Otonkoski T, Jiao H, Kaminen-Ahola N, Tapia-Paez I, Ullah MS, et al. (2007) Physical exercise induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet 81: 467-474.
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