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Neonatal diabetes mellitus due to complete glucokinase deficiency.
Njølstad PR, Søvik O, Cuesta-Muñoz A, Bjørkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI. Njølstad PR, et al. N Engl J Med. 2001 May 24;344(21):1588-92. doi: 10.1056/NEJM200105243442104. N Engl J Med. 2001. PMID: 11372010 Free article. No abstract available.
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Diabetes Study Group of the Italian Society of Paediatic Endocrinology and Diabetes (SIEDP). Massa O, et al. Diabetologia. 2001 Jul;44(7):898-905. doi: 10.1007/s001250100530. Diabetologia. 2001. PMID: 11508276
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.
Barbetti F, Cobo-Vuilleumier N, Dionisi-Vici C, Toni S, Ciampalini P, Massa O, Rodriguez-Bada P, Colombo C, Lenzi L, Garcia-Gimeno MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL. Barbetti F, et al. Among authors: cuesta munoz al. Mol Endocrinol. 2009 Dec;23(12):1983-9. doi: 10.1210/me.2009-0094. Epub 2009 Nov 2. Mol Endocrinol. 2009. PMID: 19884385 Free PMC article.
Large islets, beta-cell proliferation, and a glucokinase mutation.
Kassem S, Bhandari S, Rodríguez-Bada P, Motaghedi R, Heyman M, García-Gimeno MA, Cobo-Vuilleumier N, Sanz P, Maclaren NK, Rahier J, Glaser B, Cuesta-Muñoz AL. Kassem S, et al. Among authors: cuesta munoz al. N Engl J Med. 2010 Apr 8;362(14):1348-50. doi: 10.1056/NEJMc0909845. N Engl J Med. 2010. PMID: 20375417 Free article. No abstract available.
Diagnostic difficulties in glucokinase hyperinsulinism.
Meissner T, Marquard J, Cobo-Vuilleumier N, Maringa M, Rodríguez-Bada P, García-Gimeno MA, Baixeras E, Weber J, Olek K, Sanz P, Mayatepek E, Cuesta-Muñoz AL. Meissner T, et al. Among authors: cuesta munoz al. Horm Metab Res. 2009 Apr;41(4):320-6. doi: 10.1055/s-0028-1102922. Epub 2008 Dec 3. Horm Metab Res. 2009. PMID: 19053014 Free article.
20 results