安田和基〔糖尿病62（8）：454～456，2019
Njølstad PR, et al: Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344: 1588―1592, 2001.
Glaser B, et al: Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338: 226―230, 1998
Østoft SH et al. Diabetes Care. 2014 Jul;37(7):1797-805.
McDonald et al. Diabetes Care 2011 Aug; 34(8): 1860–1862.
S Yoshiji et al. Journal of the Endocrine Society, Vol 6, Issue 1, Jan 2022
Adalat S et al. J Am Soc Nephrol. 2009 May;20(5):1123-31
Stiles CE et al. Endocrinology Diabetes Metab Case Rep (2018) 2018:750–1
Ushijima K et al. KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. Pediatr Diabetes. 2019 Sep;20(6):712-719
Kondoh T et al. Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes. Tohoku J Exp Med. 2022 Jan;256(1):37-41
Wakako Jo et al. A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. Tohoku J Exp Med. 2011 Feb;223(2):113-8..
Molven A et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr;57(4):1131-5.
Borowiec M et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14460-5.
平木洋子 ATP感受性K+チャネル病の新規症候群. 脳と発達 2016;48:325-31
Bowman P et al. Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia 2012;55:123–7.
平木洋子 ATP感受性K+チャネル病の新規症候群. 脳と発達 2016;48:325-31
Prudente S et al. Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. Am J Hum Genet. 2015 Jul 2;97(1):177-85.
