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2009 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.
Clin Endocrinol (Oxf). 2017.
PMID: 28247534
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R, Fernández-Ramos C, Vela A, Velayos T, Aguayo A, Urrutia I, Rica I, Castaño L; Spanish Congenital Hyperinsulinism Group.
Martínez R, et al.
Eur J Endocrinol. 2016 Jun;174(6):717-26. doi: 10.1530/EJE-16-0027.
Eur J Endocrinol. 2016.
PMID: 27188453
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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.
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.
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