Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene

[1] Matschinsky FM(2002)Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics Diabetes 51 S394-404

[2] Osbak KK(2009)Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia Hum Mutat 30 1512-1526

[3] Colclough K(1998)Familial hyperinsulinism caused by an activating glucokinase mutation N Engl J Med 338 226-230

[4] Saint-Martin C(2003)Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway Diabetes 52 2854-2860

[5] Beer NL(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 7 101-263

[6] Bellanné-Chantelot C(2015)Maturity-onset diabetes of the young (MODY): an update J Pediatr Endocrinol Metab 28 251-2508

[7] Ellard S(2010)Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53 2504-63

[8] Glaser B(2018)ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents Pediatr Diabetes 19 47-6440

[9] Kesavan P(2014)Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability Hum Mol Genet 23 6432-424

[10] Heyman M(2019)Association of a homozygous GCK missense mutation with mild diabetes Mol Genet Genomic Med 7 e00728-9

[1] Matschinsky FM(2002)Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics Diabetes 51 S394-404

[2] Osbak KK(2009)Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia Hum Mutat 30 1512-1526

[3] Colclough K(1998)Familial hyperinsulinism caused by an activating glucokinase mutation N Engl J Med 338 226-230

[4] Saint-Martin C(2003)Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway Diabetes 52 2854-2860

[5] Beer NL(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 7 101-263

[6] Bellanné-Chantelot C(2015)Maturity-onset diabetes of the young (MODY): an update J Pediatr Endocrinol Metab 28 251-2508

[7] Ellard S(2010)Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 53 2504-63

[8] Glaser B(2018)ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents Pediatr Diabetes 19 47-6440

[9] Kesavan P(2014)Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability Hum Mol Genet 23 6432-424

[10] Heyman M(2019)Association of a homozygous GCK missense mutation with mild diabetes Mol Genet Genomic Med 7 e00728-9