Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s42000-021-00330-1.pdf
Reference35 articles.
1. Matschinsky FM (2002) Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes 51(Suppl 3):S394-404
2. Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S et al (2009) Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 30(11):1512–1526
3. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A et al (1998) Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338(4):226–230
4. Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D et al (2003) Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes 52(11):2854–2860
5. Esquiaveto-Aun AM, De Mello MP, Paulino MF, Minicucci WJ, Guerra-Júnior G, De Lemos-Marini SH (2015) A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. Diabetol Metab Syndr 7:101
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